Gene known for its role in breast cancer
POPULARITY
Featuring a slide presentation and related discussion from Dr Adrienne G Waks, including the following topics: Updated analyses from key studies of the 21-gene Recurrence Score® for localized ER-positive breast cancer (29:30) Four-year landmark analysis of the NATALEE trial of adjuvant ribociclib with nonsteroidal aromatase inhibitor for localized breast cancer (9:49) The PADMA trial of palbociclib with endocrine therapy compared to chemotherapy induction followed by endocrine therapy maintenance for hormone receptor (HR)-positive, HER2-negative metastatic breast cancer (mBC) (11:25) Imlunestrant with or without abemaciclib for metastatic ER-positive mBC (13:18) TROP2-directed antibody-drug conjugates (ADCs) datopotamab deruxtecan and sacituzumab tirumotecan for HR-positive/HER2-negative mBC (17:50) Recent analyses from the DESTINY-Breast06 trial of trastuzumab deruxtecan (T-DXd) after endocrine therapy for HR-positive, HER2-low or HER2-ultralow mBC (21:09) The ICARUS-BREAST01 Phase II trial of the HER3-targeted ADC patritumab deruxtecan for HR-positive/HER2-negative mBC (26:02) Updates from neoadjuvant/adjuvant trials of pembrolizumab (KEYNOTE-522) and atezolizumab (NSABP B-59/GBG 96-GeparDouze) for localized triple-negative breast cancer (TNBC) (27:36) Ten-year update of the OlympiA trial of adjuvant olaparib for patients with germline BRCA1/2-mutated HER2-negative localized breast cancer (31:23) Exploratory analysis of patients who did or did not receive prior PD-1/PD-L1 inhibition in the Phase III OptiTROP-Breast01 study of sacituzumab tirumotecan versus chemotherapy for previously treated advanced TNBC (32:56) CNS efficacy of T-DXd (DESTINY-Breast12 trial) and outcomes with palbociclib combined with anti-HER2 therapy (AFT-38 PATINA trial) for HER2-positive mBC (34:04) CME information and select publications
Send us a textSarah Powell, CEO of Inherited Cancers Australia, shares her journey from triple-negative breast cancer diagnosis at age 29 to discovering her BRCA1 mutation and becoming a powerful advocate for others facing inherited cancer risk.• Diagnosed with breast cancer at 29 with no family history, Sarah later discovered she carries a BRCA1 mutation connected to her Ashkenazi Jewish ancestry• After treatment, Sarah became involved with Pink Hope (now Inherited Cancers Australia) to find peer support from others who understood the unique challenges of genetic risk• The "Angelina Jolie effect" dramatically increased awareness about BRCA mutations and genetic testing, helping many families understand their options• Inherited Cancers Australia recently rebranded from Pink Hope to better include men in the conversation about genetic risk and reflect the wider range of cancers involved• The recent recommendation to offer genetic testing to all women with breast cancer will identify many more families at risk, but raises concerns about healthcare system capacity• Long waitlists for preventative surgeries remain a major challenge, with some women developing cancer while waiting for risk-reducing proceduresIf you're concerned about your family history of cancer, visit InheritedCancers.org.au for support, information, and connection to others facing similar challenges.This is a special episode for the 3rd Podcasthon.Support the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/
Dr Kevin S Hughes from the Medical University of South Carolina in Charleston and Dr Mark Robson from Memorial Sloan Kettering Cancer Center in New York discuss current BRCA1/2 genetic testing practices and the clinical management of localized breast cancer with alterations in these genes. CME information and select publications here.
Dr Kevin S Hughes from the Medical University of South Carolina in Charleston and Dr Mark Robson from Memorial Sloan Kettering Cancer Center in New York discuss current BRCA1/2 genetic testing practices and the clinical management of localized breast cancer with alterations in these genes. CME information and select publications here.
Many people believe that breast cancer is primarily caused by genetics, but did you know that only 5-10% of cases are linked to inherited mutations like BRCA1, BRCA2, and CHEK2? The truth is, your overall health and risk of recurrence are influenced by key biological processes such as detoxification, methylation, and inflammation—and these are things you can actively support with your nutrition and lifestyle choices. In this episode of Better Than Before Breast Cancer, I break down how these processes impact your health, how to recognize the signs of imbalance in your body, and why a low-carbohydrate diet can be a powerful tool in regulating glucose, insulin, and inflammation. I also explain why nutrition isn't about restriction—it's about giving your body the support it needs to function at its best. You'll learn:✔️ Why genetics are only part of the breast cancer risk equation✔️ How detoxification, methylation, and inflammation work together to protect your body✔️ Common signs that these processes may not be working efficiently✔️ How blood sugar regulation impacts detox, inflammation, and cancer risk✔️ How a low-carb, nutrient-dense diet supports healing and reduces recurrence risk✔️ Simple, actionable steps to support your body's detox, inflammation, and methylation pathways This episode will empower you to understand your unique genetic blueprint and how to make lifestyle changes that align with your body's needs. It's not about fear—it's about taking control of your health and making choices that truly support healing. Resources & Links:
Sintomas, diagnóstico, tratamento e prevenção.Câncer de Ovário: O Que Você Precisa SaberO câncer de ovário é um dos tipos de câncer ginecológico mais silenciosos e perigosos, pois seus sintomas costumam aparecer em estágios avançados da doença. Ele afeta os ovários, órgãos responsáveis pela produção dos óvulos e de hormônios femininos como estrogênio e progesterona.Fatores de Risco • Idade avançada (mais comum em mulheres acima dos 50 anos) • Histórico familiar de câncer de ovário, mama ou colorretal • Mutação genética (BRCA1 e BRCA2) • Terapia de reposição hormonal prolongada • Endometriose • Nunca ter engravidado.E muito mais. Assista a Live na íntegra.Imperdível!#ginecologista #cancerdeutero #cancerdeovario #flaviafairbanks #marialaurababikian #ocaminhodoencontroO Caminho do Encontro. Acompanhe, siga, compartilhe! Site: https://ocaminhodoencontro.com.br Instagram: @ocaminhodoencontro
ROMA (ITALPRESS) - “Oggi sappiamo che il vantaggio in termini di sopravvivenza dato dagli inibitori PARP alle pazienti con mutazione BRCA1 o BRCA2 si osserva anche in altre pazienti con deficit di ricombinazione omologa, ampliando la platea di beneficiarie dal 20% a quasi il 50% delle pazienti con carcinoma ovarico.” Lo ha detto Nicola Normanno, Direttore Scientifico IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) “Dino Amadori”, intervenuto a The Watcher Talk Salute, il format di Urania TV.“Abbiamo assistito a una progressiva riduzione della mortalità per carcinoma ovarico, coincidente con l'introduzione di questi farmaci - ha aggiunto Normanno -. Dati recenti mostrano anche una riduzione dell'incidenza della malattia, probabilmente dovuta all'individuazione delle famiglie ad alto rischio tramite test genetici e alla possibilità di intervenire con chirurgia preventiva e diagnosi precoce. Investire in test e nuove tecnologie per diagnosi sempre più precise è fondamentale per migliorare la prevenzione e il trattamento della malattia"fsc/gtr(Fonte video: Utopia Studios)
ROMA (ITALPRESS) - “Oggi sappiamo che il vantaggio in termini di sopravvivenza dato dagli inibitori PARP alle pazienti con mutazione BRCA1 o BRCA2 si osserva anche in altre pazienti con deficit di ricombinazione omologa, ampliando la platea di beneficiarie dal 20% a quasi il 50% delle pazienti con carcinoma ovarico.” Lo ha detto Nicola Normanno, Direttore Scientifico IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) “Dino Amadori”, intervenuto a The Watcher Talk Salute, il format di Urania TV.“Abbiamo assistito a una progressiva riduzione della mortalità per carcinoma ovarico, coincidente con l'introduzione di questi farmaci - ha aggiunto Normanno -. Dati recenti mostrano anche una riduzione dell'incidenza della malattia, probabilmente dovuta all'individuazione delle famiglie ad alto rischio tramite test genetici e alla possibilità di intervenire con chirurgia preventiva e diagnosi precoce. Investire in test e nuove tecnologie per diagnosi sempre più precise è fondamentale per migliorare la prevenzione e il trattamento della malattia"fsc/gtr(Fonte video: Utopia Studios)
ROMA (ITALPRESS) - “Il carcinoma ovarico si manifesta spesso in stadio avanzato e fino a pochi anni fa si controllava solo con chirurgia e chemioterapia. La recente disponibilità dei PARP inibitori ha rivoluzionato l'approccio sistemico e diagnostico. La genetica molecolare è fondamentale per individuare le pazienti che possono rispondere a questa terapia”. Lo ha detto Massimo Barberis, Senior Consultant in Patologia Molecolare presso l'Istituto Europeo di Oncologia, intervenuto a The Watcher Talk Salute, il format di Urania TV.“L'identificazione di alterazioni nei geni BRCA1 e BRCA2, sia a livello germinale che tumorale, è stato il primo parametro predittivo positivo - ha aggiunto Barberis -. Attraverso studi bioinformatici si è definito un indice di instabilità genetica che indica il potenziale di risposta delle pazienti. Oggi esistono diversi test per valutare questi parametri. Quando osserviamo un'alterazione di BRCA sul tumore, dobbiamo considerare se sia di tipo germinale o solo tumorale, perché un'alterazione germinale può avere implicazioni anche sulla famiglia.”fsc/gtr(Fonte video: Utopia Studios)
ROMA (ITALPRESS) - “Il carcinoma ovarico si manifesta spesso in stadio avanzato e fino a pochi anni fa si controllava solo con chirurgia e chemioterapia. La recente disponibilità dei PARP inibitori ha rivoluzionato l'approccio sistemico e diagnostico. La genetica molecolare è fondamentale per individuare le pazienti che possono rispondere a questa terapia”. Lo ha detto Massimo Barberis, Senior Consultant in Patologia Molecolare presso l'Istituto Europeo di Oncologia, intervenuto a The Watcher Talk Salute, il format di Urania TV.“L'identificazione di alterazioni nei geni BRCA1 e BRCA2, sia a livello germinale che tumorale, è stato il primo parametro predittivo positivo - ha aggiunto Barberis -. Attraverso studi bioinformatici si è definito un indice di instabilità genetica che indica il potenziale di risposta delle pazienti. Oggi esistono diversi test per valutare questi parametri. Quando osserviamo un'alterazione di BRCA sul tumore, dobbiamo considerare se sia di tipo germinale o solo tumorale, perché un'alterazione germinale può avere implicazioni anche sulla famiglia.”fsc/gtr(Fonte video: Utopia Studios)
BIANCA BALTI E LA BATTAGLIA CONTRO IL CANCRO: Qual'è il Tumore Che l'ha Colpita!Bianca Balti torna a Sanremo dopo la diagnosi di tumore ovarico al terzo stadio. La sua storia di lotta e prevenzione riaccende i riflettori sulla mutazione BRCA e l'importanza della consapevolezza.#BiancaBalti #Sanremo2025 #TumoreOvarico #BRCA1 #Prevenzione #Cancro #Forza #Resilienza #Salute #Consapevolezza
Between 5-10% of breast and 20-25% of ovarian cancers are inherited. The majority of hereditary breast and ovarian cancer cases are caused by deleterious mutations (variants) in the BRCA1 and BRCA2 genes, which normally prevent cancer through protecting and repairing our DNA. Genetic testing is used to identify pathogenic BRCA carriers who would subsequently benefit from personalized screening, preventative and management plans. However, its widespread implementation has resulted in a significant increase in findings of variants of uncertain significance (VUS) – DNA sequence variants with uncertain effects on disease risk. VUSs pose a critical clinical challenge as they limit clinicians' ability to effectively interpret genetic test results. For upcoming interviews check out the Grad Chat webpage on Queen’s University School of Graduate Studies & Postdoctoral Affairs website.
Early Triple Negative Breast Cancer remains an aggressive variant of all breast cancers, affecting those under 40 more and has a higher propensity for being in those with BRCA1/2 mutations. It represents about 15% of all breast cancers.This week, we explore the benefit of immunotherapy (pembrolizumab), looking at improved complete pathological response as a surrogate marker for OS and the role of capecitabine in the adjuvant setting.Studies discussed in the episode:CREATE-XKEYNOTE-522For more episodes, resources and blog posts, visit www.inquisitiveonc.comPlease find us on Twitter @InquisitiveOnc!If you want us to look at a specific trial or subject, email us at inquisitiveonc@gmail.comArt courtesy of Taryn SilverMusic courtesy of AlisiaBeats: https://pixabay.com/users/alisiabeats-39461785/Disclaimer: This podcast is for educational purposes only. If you are unwell, seek medical advice.Oncology for the Inquisitive Mind is recorded with the support of education grants from our foundation partners Pfizer, Gilead Pharmaceuticals and Merck Pharmaceuticals. Our partners have no editorial rights or early previews, and they have access to the episode at the same time you do. Hosted on Acast. See acast.com/privacy for more information.
Hormonal birth control increases breast cancer risk in women with a BRCA1 mutation, but not women with a BRCA2 mutation. Levonorgestrel IUDs increase risk, but how much? The long-term risk of breast cancer coming back — recurring — as metastatic disease has gone down in the last 20 years, but younger women still have a higher risk than older women. What does all this mean? Breastcancer.org Professional Advisory Board member Dr. Kathy Miller discusses the details of these studies and how they may affect you. Listen to the episode to hear Dr. Miller discuss these studies: hormonal birth control ups risk of breast cancer in women with a BRCA1 mutation levonorgestrel IUDs increase risk breastfeeding after breast cancer seems safe the long-term risk of late, distant recurrence has gone down but age affects that risk
Dr. Jasmine Sukumar and Dr. Dionisia Quiroga discuss advances in adjuvant therapy for patients with early breast cancer and BRCA1/2 mutations, including how to identify patients who should receive genetic testing and the significant survival benefits of olaparib that emerged from the OlympiA trial. TRANSCRIPT Dr. Jasmine Sukumar: Hello, I'm Dr. Jasmine Sukumar, your guest host of the ASCO Daily News Podcast today. I'm an assistant professor and breast medical oncologist at the University of Texas MD Anderson Cancer Center. On today's episode, we'll be exploring advances in adjuvant therapy for high-risk early breast cancer in people with BRCA1/2 germline mutations. Joining me for this discussion is Dr. Dionisa Quiroga, an assistant professor and breast medical oncologist at the Ohio State University Comprehensive Cancer Center. Our full disclosures are available in the transcript of this episode. Dr. Quiroga, it's great to have you on the podcast. Thanks for being here. Dr. Dionisia Quiroga: Thank you. Looking forward to discussing this important topic. Dr. Jasmine Sukumar: Let's start by going over who should be tested for BRCA1/2 genetic mutations. How do you identify patients with breast cancer in your clinic who should be offered BRCA1/2 genetic testing? Dr. Dionisia Quiroga: So, guidelines on who to offer testing to somewhat differ between organizations at this point. I would say, generally, I do follow our current ASCO-Society of Surgical Oncology (SSO) Guidelines, though. Those guidelines recommend that BRCA1/2 mutation testing be offered to all patients who are diagnosed with breast cancer and are 65 years old or younger. For those that are older than 65 years old, there are additional factors to really take into account to decide on who to recommend testing for. Some of this has to do with personal and family history as well as ancestry. The NCCN also has their own specific guidelines for who to offer testing to. For example, people assigned male at birth; those who are found to have a second breast primary; those who are diagnosed at a young age; and those with significant family history should also be offered BRCA1/2 testing. I think, very important for our discussion today, ASCO and SSO also made a very important point that all patients who may be eligible for PARP inhibitor therapy should be offered testing. So clearly this includes a large amount of our patient population. In my practice, we often refer to our Cancer Genetics Program. We're fortunate to have many experienced genetic counselors who can complete pre-test and post-test counseling with our patients. However, in settings where this may not be accessible to patients, it can also be appropriate for oncology providers to order the testing and ideally perform some of this counseling as well. Dr. Jasmine Sukumar: Thank you Dr. Quiroga. Let's next review where we are in current clinical practice guidelines. What current options do we have for adjuvant therapy specific to people with high-risk early breast cancer and BRCA1/2 genetic mutations? Dr. Dionisia Quiroga: Our current guidelines recommend adjuvant olaparib for one year for individuals with HER2-negative high risk breast cancer. This approval largely came from the data and the results of the OlympiA trial. This was a prospective phase 3, double blind, randomized clinical trial. It enrolled patients who had been diagnosed with HER2-negative early-stage breast cancer who also carried germline pathogenic or likely pathogenic variants of either the BRCA1 and/or BRCA2 genes. The disease also had to be considered high-risk and there were several criteria that had to be evaluated to deem whether or not these patients were high-risk. For example, those who are treated with neoadjuvant chemotherapy, if they had disease that was triple-negative, they needed to have some level of invasive residual disease at time of surgery. Alternatively, if the disease was hormone receptor-positive, they needed to have residual disease and a calculated CPS + EG score of 3 or higher. This scoring system is something that estimates relapse probability on the basis of clinical and pathologic stage, ER status, and histologic grade, and this will give you a score ranging from 0 to 6. In general, the higher the score, the worse the prognosis. This calculator though is available to the public online to allow providers to calculate this risk. For the subset of patients who received adjuvant chemotherapy, for them to qualify for the OlympiA trial, if they had triple-negative disease, they needed to have a tumor of at least 2 cm or greater and/or have positive lymph nodes for disease. For hormone receptor-positive disease that was treated with adjuvant chemotherapy, they were required to have four or more pathologically confirmed positive lymph nodes at time of surgery. From this specified pool, patients were then randomized 1:1 to get either adjuvant olaparib starting at 300 mg twice a day or a matching placebo twice a day after they had completed surgery, chemotherapy and radiation treatment if needed. Dr. Jasmine Sukumar: And what were the outcomes of this study? Dr. Dionisia Quiroga: The study ended up enrolling over 1,800 patients and from these 1,800 patients, 70% had a BRCA1 mutation while 30% had a BRCA2 mutation. About 80% of the patients had triple-negative disease compared to hormone receptor-positive disease. Interestingly, about half of all patients enrolled had received neoadjuvant chemotherapy while the other half received adjuvant chemotherapy. Looking at the outcomes, this was overall a very positive study. We actually now have outcomes data from a median of about 6 years out. This was just reported in December at the 2024 San Antonio Breast Cancer Symposium. There was found to be a 9.4% absolute difference in six-year invasive disease-free survival favoring the olaparib arm over the placebo arm. What was also interesting is that this was consistent across multiple subgroups of patients and the benefit was really seen whether or not they had hormone receptor-positive or triple-negative disease. The absolute difference in distant disease-free survival was also high at 7.8% and additionally favored olaparib. Most importantly, there was found to be a significant overall survival benefit. The six-year overall survival was 87.5% in the olaparib group compared to 83.2% in the placebo group. This translates to about a 4.4% difference and a relative 28% overall survival benefit in using olaparib. Now, future follow up is going to be very important. Follow up for this study is actually planned to continue out until June 2029 so we can continue to observe if these survival curves will continue to branch apart as they have so far at each follow up. And I think this is especially important for those patients diagnosed with hormone receptor-positive cancers because we know those patients are at particular risk for later recurrences. As an additional side note, the researchers also noted that there were fewer primary malignancies in the olaparib group, not just of the breast but also primary ovarian or fallopian tube cancers as well, which is not completely surprising knowing that this drug is also heavily used and beneficial in different types of gynecologic cancers. Ultimately, the amount of adverse events reported have been low with only about 9.9% of patients receiving olaparib needing to discontinue drug due to adverse events, and this is compared to 4.2% reported in the placebo group. Dr. Jasmine Sukumar: You mentioned that the OlympiA trial showed an overall survival benefit, but interestingly the OlympiAD trial looking at olaparib versus chemotherapy in patients with advanced metastatic HER2-negative breast cancer did not show a significant overall survival benefit. Could you discuss those differences? Dr. Dionisia Quiroga: I agree, that's a very good point. So OlympiA's comparator arm was, of course, a placebo. So while this isn't the same as comparing to chemotherapy, it does still potentially suggest that there is a degree of benefit that olaparib can provide when it's introduced in the early local disease setting compared to advanced metastatic disease. I think we need more future trials looking at potential other combinations to see if we can improve the efficacy of PARP inhibitors in the metastatic setting. Dr. Jasmine Sukumar: For patients who do choose to proceed with use of adjuvant olaparib due to the promising efficacy, what side effects should oncologists counsel their patients about? Dr. Dionisia Quiroga: The most common notable side effects, I would say with olaparib and other PARP inhibitors are really cytopenias. Gastrointestinal side effects such as nausea and vomiting can occur as well as fatigue. There are some less common but potentially more serious side effects that we should counsel our patients on. This includes pneumonitis. So counseling patients on if they're short of breath or experiencing cough to let their provider know. Venous thromboembolism can also be increased rates of occurrence. And then of course myelodysplastic syndromes or acute myeloid leukemia is something that we often are concerned about. That being said, I think it should be noted that interestingly in the OlympiA trial so far, there have been less new cases of MDS and AML in the olaparib group than actually what's been reported in the placebo group at this median follow up of over six years out. So we'll need to continue to monitor this endpoint over time, but I do think this provides some reassurance. Dr. Jasmine Sukumar: Since the initiation of the OlympiA trial, other adjuvant treatments have also been studied and FDA approved for non-metastatic HER2-negative breast cancer. So for example, the CREATE-X trial established adjuvant capecitabine as an FDA approved treatment option in patients with triple-negative breast cancer who had residual disease following neoadjuvant chemotherapy. So if a patient with triple-negative breast cancer with residual disease is eligible for both adjuvant olaparib and adjuvant capecitabine treatments, how do you decide amongst the two? Dr. Dionisia Quiroga: If a patient's eligible for both, I honestly often favor olaparib, and I do this because I find the data for adjuvant olaparib a little bit more compelling. There are also differences in toxicity profile and treatment duration between the two that I think we should discuss with patients. For example, olaparib is supposed to be taken for a year total, whereas with capecitabine we typically treat for six to eight cycles with each cycle taking three weeks. There are some who may also sequence the two drugs in very high-risk disease. However, this is very much a data free zone. We don't have any current clinical trials really comparing these two or if sequencing of these agents is appropriate. So I don't currently do this in my own clinical practice. Dr. Jasmine Sukumar: Nowadays, almost all patients with stage 2 to 3 triple-negative breast cancer will be offered neoadjuvant chemotherapy plus immune checkpoint inhibitor therapy pembrolizumab per our KEYNOTE-522 trial data. With our current approach, pembrolizumab is continued into the adjuvant setting regardless of surgical outcome, so that patients receive a year total of immunotherapy. So in patients with residual disease and a BRCA germline mutation, do you suggest using adjuvant olaparib concurrently with pembrolizumab? Do we have any data to support that approach? Dr. Dionisia Quiroga: I do. I do use them concurrently. If a patient is eligible for adjuvant olaparib, I would use it the same way as if they were not on pembrolizumab. That being said, there are no large studies currently that have shown what the benefit or the toxicity of pembrolizumab plus olaparib are for early-stage disease. However, we do have some safety data of this combinatorial approach from other studies. For example, the phase 2/3 KEYLYNK-009 study showed that patients with advanced metastatic triple-negative breast cancer who were receiving concurrent pembrolizumab and olaparib had a manageable safety profile, particularly as the toxicities of these drugs alone don't tend to overlap. Dr. Jasmine Sukumar: And what about endocrine therapy for those that also have hormone receptor-positive disease? Dr. Dionisia Quiroga: Adjuvant endocrine therapy should definitely be continued while patients are on olaparib if they're hormone receptor-positive. An important component of this will also likely be ovarian suppression, which should include recommendation of risk reducing bilateral salpingo oophorectomy due to the risk of ovarian cancer development in patients who carry BRCA1/2 gene mutations. In most cases, this should happen at age 40 or before for those that carry a BRCA1 mutation, and at age 45 or prior for those with BRCA2 mutations. Dr. Jasmine Sukumar: And do you also consider adjuvant bisphosphonates in this context? Dr. Dionisia Quiroga: Yes. Like adjuvant endocrine therapy, adjuvant bisphosphonates were also instructed to be given according to standard guidelines in the OlympiA trial, so I would recommend use of bisphosphonates when indicated. You can refer to the ASCO Ontario Health Guidelines on Adjuvant Bone-Modifying Therapy Breast Cancer to guide that decision in order to utilize this due to multiple clinical benefits. It doesn't just help in terms of adjuvant breast cancer treatment but also reduction of fracture rate and down the line, improved breast cancer mortality. Dr. Jasmine Sukumar: Particularly in hormone receptor-positive breast cancer, another adjuvant therapy option that was not available when the OlympiA trial started are the CDK4/6 inhibitors, ribociclib and abemaciclib, based on the NATALEE and monarchE studies. So how do you consider the use of these adjuvant therapy drugs in the context of olaparib and BRCA mutations? Dr. Dionisia Quiroga: Yeah, so we are definitely in a data-free zone here. And that's in part because the NATALEE and the monarchE studies are still ongoing and reporting data out at the same time that we're getting updated OlympiA data. So unlike some of our other adjuvant treatments that we discussed, where olaparib could be safely given concurrently, the risk of myelosuppression and using both a CDK4/6 inhibitor and a PARP inhibitor at the same time would be too high. In some cases, even if a patient has a BRCA1/2 mutation, they may not meet that specified inclusion criteria that OlympiA set for what they consider to be high-risk disease. And we know from the NATALEE and the monarchE trial there are also different markers that they use to denote high-risk disease. So it's possible, for example, in the NATALEE trial that looks specifically at adjuvant ribociclib, they included a much larger pool of hormone receptor-positive early-stage breast cancers, including a subset that did not have positive axillary lymph nodes. In cases where patients would qualify for both olaparib and a CDK4/6 inhibitor, I think this is worth a nuanced discussion with our patients about the potential benefits, risks and administration of these drugs. I think another point to bring up is the cost associated with these drugs and the length of time patients will be on for, because financial toxicity is always something that we should bring up with patients as well. When sequencing these in high-risk disease, my practice is to generally favor olaparib first due to the overall survival data. There is also some data to support that patients with BRCA1/2 germline mutations may not respond quite as well to CDK4/6 inhibitors compared to those without. But again, this is still outside of the purview of current guidelines. Fortunately, we have more potential choices for patients, and that's a good thing, but shared decision making also needs to be key. Dr. Jasmine Sukumar: And while our focus today is on adjuvant treatment for people who carry germline BRCA mutations, what about other related gene mutations such as PALB2 pathogenic variant? Dr. Dionisia Quiroga: That's a great question. Clinical trials in the advanced metastatic setting have shown that there is efficacy of olaparib in the setting for PALB2 mutations. This is largely based on the TBCRC 048 phase 2 trial and that provided a Category 2B NCCN recommendation for patients with these PALB2 gene mutations. However, we're really still lacking enough clinical data for use in early-stage disease, so I don't currently use adjuvant olaparib in this case. I am definitely eager for more data in this area as the efficacy of PARP inhibitors in PALB2 gene mutations is very compelling. I think also, in the same line, there's been some data for somatic BRCA1/2 mutations in the metastatic setting, but we still have a lack of data for the early stage setting here as well. Dr. Jasmine Sukumar: Thank you Dr. Quiroga, for sharing your valuable insights with us today on the ASCO Daily News Podcast. Dr. Dionisia Quiroga: Thank you, Dr. Sukumar. Dr. Jasmine Sukumar: And thank you to our listeners for your time today. You'll find links to the studies discussed today in the transcript of this episode. Finally, if you value the insights that you hear on the ASCO Daily News Podcast, please take a moment to rate, review and subscribe wherever you get your podcasts. Thank you. Disclaimer: The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement. Follow today's speakers: Dr. Dionisa Quiroga @quirogad @quirogad.bsky.social Dr. Jasmine Sukumar @JasmineSukumar @jasmine.sukumar.bsky.social Follow ASCO on social media: @ASCO on X @ASCO on Bluesky ASCO on Facebook ASCO on LinkedIn Disclosures: Dr. Dionisia Quiroga: No relationships to disclose Dr. Jasmine Sukumar: Honoraria: Sanofi (Immediate Family Member)
Dr. Stéphanie Gaillard and Dr. Bill Tew share updates to the evidence-based guideline on neoadjuvant chemotherapy for newly diagnosed, advanced ovarian cancer. They highlight recommendations across ten clinical questions, addressing initial assessment, primary cytoreductive surgery, neoadjuvant chemotherapy (NACT), tests and/or procedures that should be completed before NACT, preferred chemotherapy regimens, timing of interval cytoreductive surgery (ICS), hyperthermic intraperitoneal chemotherapy (HIPEC), post ICS-chemotherapy, maintenance therapy, and options for those without a clinical response to NACT. They highlight the evidence supporting these recommendations and emphasize the importance of this guideline for clinicians and patients. Read the full guideline update, “Neoadjuvant Chemotherapy for Newly Diagnosed, Advanced Ovarian Cancer: ASCO Guideline Update” at www.asco.org/gynecologic-cancer-guidelines." TRANSCRIPT This guideline, clinical tools, and resources are available at http://www.asco.org/genitourinary-cancer-guidelines. Read the full text of the guideline and review authors' disclosures of potential conflicts of interest in the Journal of Clinical Oncology. Brittany Harvey: Hello and welcome to the ASCO Guidelines podcast, one of ASCO's podcasts delivering timely information to keep you up to date on the latest changes, challenges and advances in oncology. You can find all the shows, including this one at asco.org/podcasts. My name is Brittany Harvey and today I'm interviewing Dr. Stéphanie Gaillard from Johns Hopkins University and Dr. Bill Tew from Memorial Sloan Kettering Cancer Center, co-chairs on “Neoadjuvant Chemotherapy for Newly Diagnosed, Advanced Ovarian Cancer: ASCO Guideline Update.” Thank you for being here today, Dr. Gaillard and Dr. Tew. Dr. Bill Tew: Thank you for having us. Dr. Stéphanie Gaillard: Yeah, thank you. It's great to be here. Brittany Harvey: Great. Then, before we discuss this guideline, I'd like to note that ASCO takes great care in the development of its guidelines and ensuring that the ASCO Conflict of Interest policy is followed for each guideline. The disclosures of potential conflicts of interest for the guideline panel, including Dr. Gaillard and Dr. Tew, who have joined us here today, are available online with the publication of the guideline in the Journal of Clinical Oncology, which is linked in the show notes. So then to dive into the content here, first, Dr. Tew, could you describe what prompted this update to the neoadjuvant chemotherapy for ovarian cancer guideline? And what is the scope of this update? Dr. Bill Tew: Yeah. It's been almost a decade since ASCO first published its neoadjuvant chemotherapy guidelines for women with newly diagnosed ovarian cancer, and over that 10-year period, there's really been a major shift in how oncologists treat patients in the U.S. If you look at the National Cancer Database, between 2010 and 2021, the proportion of patients with advanced ovarian cancer who underwent primary surgery fell from about 70% to about 37%. And there's been a doubling in the amount of neoadjuvant chemotherapy used. So we wanted to take a look at that and really both highlight the appropriate patient populations for primary surgery versus new adjuvant chemotherapy, as well as review any studies that have been published since then. There's been, I think, about 61 trials published, nine randomized trials alone in the last 10 years. And the scope of the guideline was really not only the neoadjuvant chemotherapy and surgical questions, but also to touch upon some new treatments that have come to the forefront in newly diagnosed ovarian cancer, including heated intraperitoneal chemotherapy or HIPEC, as well as the integration of maintenance therapy, particularly bevacizumab and PARP inhibitors. Brittany Harvey: Understood. That's a large amount of new evidence to review in this Update. Then, next, Dr. Gaillard, I'd like to review the key recommendations across the 10 clinical questions that the guideline addressed. So, starting with: What is recommended regarding initial assessment for patients with newly diagnosed pelvic masses and/or upper abdominal or peritoneal disease? Dr. Stéphanie Gaillard: Sure. So in talking about the first guidelines, the first one that we addressed was how to do the initial assessment for these patients. And first, and probably most critically, it's important to recognize that these patients really should be evaluated by a gynecologic oncologist prior to initiation of any therapy, whether that means a primary cytoreductive surgery or neoadjuvant chemotherapy, because really, they are the best ones to determine the pathway that the patient should take. The initial assessment should involve a CA-125, a CT of the abdomen and pelvis with oral and IV contrast, if not contraindicated, and then also chest imaging, in which a CT is really the preferred modality. And that helps to evaluate the extent of disease and the feasibility of the surgical resection. Now, there may be some other tools that could be helpful to also refine this assessment. So, for example, a laparoscopy can really help to determine the feasibility of surgical resection as well as the extent of disease. Further imaging, such as diffusion-weighted MRI or FDG-PET scans can be helpful, as well as ultrasounds. And then also an endometrial biopsy. And that was newly added because there really has been a divergence of treatment for endometrial cancer versus ovarian cancer. And so it's really important to determine upfront where the source of the disease is coming from. Brittany Harvey: I appreciate you describing those recommendations surrounding initial assessment. So following this assessment, Dr. Tew, which patients with newly diagnosed advanced epithelial ovarian cancer should be recommended primary cytoreductive surgery? Dr. Bill Tew: The key thing here is if the GYN oncology surgeon feels that they have a high likelihood of achieving a complete cytoreduction with acceptable morbidity, the panel overwhelmingly agrees that primary cytoreduction surgery should be recommended over chemotherapy. And we know that surgery is really the cornerstone to achieving clinical remission. And our concern is that neoadjuvant chemotherapy may be overused in this fit population. Sometimes it is challenging to determine truly if a patient has a high likelihood of complete cytoreduction or what is acceptable morbidity. But an evaluation with performance status, fitness, looking at age or frailty, nutritional status, as well as a review of imaging studies to plan and determine for who is the right patient for primary surgery is key. Brittany Harvey: And then the title of this guideline, Dr. Gaillard, for which patients is neoadjuvant chemotherapy recommended? Dr. Stéphanie Gaillard: Yeah. So there's really two patient populations that we think are best suited to receive neoadjuvant chemotherapy. Those may be patients who are fit for a primary cytoreductive surgery, but they're unlikely to have a complete cytoreduction if they were to go to surgery directly. And so that's where neoadjuvant chemotherapy can be very helpful in terms of increasing the ability to obtain a complete cytoreduction. The second population is those who are newly diagnosed who have a high perioperative risk, and so they're not fit to go to surgery directly. And so it may be better to start with neoadjuvant chemotherapy and then do an interval cytoreductive surgery. Again, I just want to emphasize the importance of including a gynecologic oncologist when making these determinations for patients. Brittany Harvey: Absolutely. So then the next clinical question. Dr. Tew, for those patients with newly diagnosed stage 3 to 4 epithelial ovarian cancer, what tests and or procedures are recommended before neoadjuvant chemotherapy is delivered? Dr. Bill Tew: The key test is to confirm the proper diagnosis, and that requires histological confirmation with a core biopsy. And this was a point the panel strongly emphasized, which is a core biopsy is a much better diagnostic tool compared to cytology alone. But there will be cases, exceptional cases, where a core biopsy cannot be performed. And in those settings, cytology combined with serum CA-125 and CEA is acceptable to exclude a non-gynecologic cancer. The other reason why cord biopsy is strongly preferred is because we already need to start thinking about germline and somatic testing for BRCA1 and 2. This information is important as we start to think about maintenance strategies for our patients. And so having that information early can help tailor the first-line chemotherapy regimen. Brittany Harvey: So then you've described who should be receiving neoadjuvant chemotherapy, but Dr. Gaillard, for those who are receiving neoadjuvant chemo, what is the preferred chemotherapy regimen? And then what does the expert panel recommend regarding timing of interval cytoreductive surgery? Dr. Stéphanie Gaillard: Sure. So for neoadjuvant chemotherapy, we generally recommend a platinum taxane doublet. This is especially important for patients with high grade serous or endometrioid ovarian cancers, and that's really because this is what the studies had used in the neoadjuvant trials. We recognize, however, that sometimes there are individual patient factors, such as advanced age or frailty, or certain disease factors such as the stage or rare histology that may shift what is used in terms of chemotherapy, but the recommendation is to try to stick as much as possible to the platinum taxane doublet. And then in terms of the timing of interval cytoreductive surgery, this was something that the panel discussed quite a bit and really felt that it should be performed after four or fewer cycles of neoadjuvant chemotherapy, especially in patients who've had a response to chemotherapy or stable disease. Sometimes alternative timing of surgery can be considered based on some patient centered factors, but those really haven't been prospectively evaluated. The studies that looked at neoadjuvant chemotherapy usually did the interval cytoreductive surgery after three or four cycles of chemotherapy. Brittany Harvey: For those patients who are receiving interval cytoreductive surgery, Dr. Tew, earlier in the podcast episode, you mentioned a new therapy. What is recommended regarding hyperthermic intraperitoneal chemotherapy? Dr. Bill Tew: Yeah, or simply HIPEC as everyone refers to it. You know, HIPEC isn't really a new therapy. HIPEC is a one-time perfusion of cisplatin, which is a chemotherapy that has been a standard treatment for ovarian cancer for decades. But the chemotherapy is heated and used as a wash during the interval cytoreductive surgery. And since our last guideline, there has been a publication of a randomized trial that looked at the use of HIPEC in this setting. And in that study there was improved disease-free and overall survival among the patients that underwent HIPEC versus those that did not. So we wanted to at least emphasize this data. But we also wanted to recognize that HIPEC may not be available at all sites. It's resource-intensive. It requires a patient to be medically fit for it, particularly renal function and performance status. And so it's something that could be discussed with the patient as an option in the interval cytoreductive surgery. One other point, the use of HIPEC during primary surgery or later lines of therapy still is unknown. And the other point is this HIPEC trial came prior to the introduction of maintenance PARP inhibitors. So there's still a lot of unknowns, but it is a reasonable option to discuss with appropriate patients. Brittany Harvey: I appreciate you reviewing that data and what that updated recommendation is from the panel. So then, Dr. Gaillard, after patients have received neoadjuvant chemotherapy and interval cytoreductive surgery, what is the post ICS chemotherapy recommended? Dr. Stéphanie Gaillard: The panel recommends some post ICS chemotherapy, as you mentioned. This is typically to continue the same chemotherapy that was done as neoadjuvant chemotherapy and so preferably platinum and taxane. And typically we recommend a total of six cycles of treatment, although the exact number of cycles that is given post-surgery can be adjusted based on different patient factors and their response to treatment. Importantly, also, timing is a factor, and we recommend that postoperative chemotherapy begin within four to six weeks after surgery, if at all feasible. Brittany Harvey: Absolutely. Those timing recommendations are key as well. So then, Dr. Tew, you mentioned this briefly earlier, but what is the role of maintenance therapy? Dr. Bill Tew: Maintenance therapy could be a full podcast plus of discussion, and it's complicated, but we did want to include it in this guideline in part because the determination of whether to continue treatment after completion of surgery and platinum based therapy is key as one is delivering care in the upfront setting. So first off, when we say maintenance therapy, we are typically referring to PARP inhibitors or bevacizumab. And I would refer listeners to the “ASCO PARP Inhibitor Guideline” that was updated about two years ago, as well as look at the FDA-approved label indications. But in general, PARP inhibitors, whether it's olaparib or niraparib, single agent or olaparib with bevacizumab, are standard treatments as maintenance, particularly in those patients with a germline or somatic BRCA mutation or those with an HRD score positive. And so it's really important that we emphasize germline and somatic BRCA testing for all patients with newly diagnosed ovarian cancer so that one can prepare for the use of maintenance therapy or not. And the other point is, as far as bevacizumab, bevacizumab is typically initiated during the chemotherapy section of first-line treatment. And in the guidelines we gave specific recommendations as far as when to start bevacizumab and in what patient population. Brittany Harvey: Great. Yes. And the PARP inhibitors guideline you mentioned is available on the ASCO guidelines website and we can provide a link in the show notes for our listeners. So then, the last clinical question, Dr. Gaillard, what treatment options are available for patients without a clinical response to neoadjuvant chemotherapy? Dr. Stéphanie Gaillard: Yeah, this is a tough situation. And so it's important to remember that ovarian cancer typically does respond to chemotherapy initially. And so it's unusual to have progressive disease to neoadjuvant chemotherapy. So it's really important that if someone has progressive disease that we question whether we really have the right diagnosis. And so it's important to, I think at that point, obtain another biopsy and make sure that we know what we're really dealing with. In addition, this is where Dr. Tew mentioned getting the molecular profiling and genetic testing early in the course of disease. If that hasn't been done at this point in time, it's worth doing that in this setting so that that can also potentially help guide options for patients. And patients who are in those situations, really, the options are other chemotherapy regimens, clinical trials may be an option, or in some situations, if they have really rapidly progressing disease that isn't amenable to further therapy, then initiation of end-of-life care would be appropriate. Brittany Harvey: I appreciate you both for reviewing all of these recommendations and options for patients with advanced ovarian cancer. So then to wrap us up, in your view, what is both the importance of this guideline update and how will it impact clinicians and patients with advanced ovarian cancer? Dr. Bill Tew: Well, first off, I'm very proud of this guideline and the panel that I work with and Dr. Gaillard, my co-chair. The guideline really pulls together nicely all the evidence in a simple format for oncologists to generate a plan and determine what's the best step for patients. The treatment of ovarian cancer, newly diagnosed, is really a team approach - surgeons, medical oncologists, and sometimes even general gynecologists - and understanding the data is key, as well as the advances in maintenance therapy and HIPEC. Dr. Stéphanie Gaillard: For my part, I'd say we hope that the update really provides physicians with best practice recommendations as they navigate neoadjuvant chemotherapy decisions for their patients who are newly diagnosed with ovarian cancer. There is a lot of data out there and so we hope that we've synthesized it in a way that makes it easier to digest. And along that regard, I really wanted to give a special shout out to Christina Lacchetti, who just put in a tremendous effort in putting these guidelines together and in helping to coordinate the panel. And so we really owe a lot to her in this effort. Dr. Bill Tew: Indeed. And ASCO, as always, helps guide and build a great resource for the oncology community. Brittany Harvey: Absolutely. Yes, we hope this is a useful tool for clinicians. And I want to thank you both for the large amount of work you put in to update this evidence-based guideline. And thank you for your time today, Dr. Gaillard and Dr. Tew. Dr. Stéphanie Gaillard: Thank you. Dr. Bill Tew: Thank you for having us. Brittany Harvey: And thank you to all of our listeners for tuning in to the ASCO Guidelines Podcast. To read the full guideline, go to www.asco.org/gynecologic-cancer-guidelines. You can also find many of our guidelines and interactive resources in the free ASCO Guidelines app, which is available in the Apple App Store or the Google Play Store. If you have enjoyed what you've heard today, please rate and review the podcast and be sure to subscribe so you never miss an episode. The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.
Dr. Evan Yu presents the new evidence-based guideline on genetic testing for metastatic prostate cancer. He discusses who should receive germline and somatic testing with next-generation sequencing technologies, what samples are preferred for testing, and the therapeutic & prognosistc impacts of genetic testing. Dr. Yu emphasizes the need for awareness and refers to areas of active investigation and future research to improve personalized therapies for patients with metastatic prostate cancer. Read the full guideline, “Germline and Somatic Genomic Testing for Metastatic Prostate Cancer: ASCO Guideline” at www.asco.org/genitourinary-cancer-guidelines. TRANSCRIPT This guideline, clinical tools, and resources are available at http://www.asco.org/genitourinary-cancer-guidelines. Read the full text of the guideline and review authors' disclosures of potential conflicts of interest in the Journal of Clinical Oncology, https://ascopubs.org/doi/10.1200/JCO-24-02608 Brittany Harvey: Hello and welcome to the ASCO Guidelines podcast, one of ASCO's podcasts delivering timely information to keep you up to date on the latest changes, challenges and advances in oncology. You can find all the shows, including this one at asco.org/podcasts. My name is Brittany Harvey and today I'm interviewing Dr. Evan Yu from the University of Washington and Fred Hutchinson Cancer Center, lead author on “Germline and Somatic Genomic Testing for Metastatic Prostate Cancer: ASCO Guideline”. Thank you for being here today, Dr. Yu. Dr. Evan Yu: Thanks for having me on. Brittany Harvey: Great. Then before we discuss this guideline, I'd like to note that ASCO takes great care in the development of its guidelines and ensuring that the ASCO Conflict of Interest policy is followed for each guideline. The disclosures of potential conflicts of interest for the entire guideline, including Dr. Yu, who has joined us here today, are available online with the publication of the guideline in the Journal of Clinical Oncology, which is linked in the show notes. So then, Dr. Yu, to start us off on the content of this guideline, could you first provide an overview of both the purpose and scope of this guideline? Dr. Evan Yu: Yeah, absolutely. So I think the one key thing to recognize is that prostate cancer is the highest incidence of all cancers in males. Additionally, it's the second highest cause of mortality in males, and that's about 35,000 deaths in 2024. So with that being said and done, it's a disease where we need to do better. And part of that is recognizing that we now have many targeted therapies, precision medicine type of therapies, but unlike a lot of other cancers out there, prostate cancer patients are not always getting sequencing, next generation DNA sequencing, let's say, to identify both inherited and also spontaneously develop what we call somatic mutations in their tumor. And I suspect that's partially because other cancers like breast cancer, we're so used to- in the first line, you present the patient, you throw out their estrogen receptor status, progesterone receptor status, HER2, ER/PR HER2; in lung cancer it's EGFR, ALK, ROS1, etc. In things like prostate cancer, things like BRCA2 have major important patient treatment implications and potentially family counseling and downstream cascade testing implications. But it hasn't made their way into that first-line presentation yet. And for that reason, there are some studies out there that show that testing in the community may be as low as 15% of patients with metastatic prostate cancer. We want to bring awareness to that and hopefully increase testing down the road so that we can better help our patients with metastatic prostate cancer. Brittany Harvey: Absolutely. It's important to get these targeted therapies to the patients who can benefit most. Using that context, I'd like to next review the key recommendations of this guideline across the six clinical questions that the panel addressed. So, starting with: Who should receive germline testing with next generation sequencing technologies? Dr. Evan Yu: Yeah. We think that it's common enough that everyone with metastatic prostate cancer should receive germline genetic testing. And the reason for that is there have been studies that have looked at this and have shown that 12% of men with metastatic prostate cancer have some sort of inherited germline mutation in a gene, mostly DNA repair genes. But 12% have something that is inherited and that loved ones, first degree relatives, siblings, offspring might have also inherited. Now, most of these are in the DNA repair genes, but that being said and done, there's not only treatment implications for the patient, where there are newer drugs that that patient could get treated with, but other loved ones that might have inherited these gene mutations, that these things can cause other cancers as well - not just prostate cancer, but breast cancer, endometrial cancer, ovarian cancer, pancreatic cancer. So, it's very important to test, with as high of an incidence as 12%, to test, and if you identify it in a patient, it's our job to talk to the patient about it and talk to them about the pros and cons of family counseling and talking to their loved ones and potentially having their loved ones get tested. Because if they test positive, then their doctors may want to know and may screen them very, very aggressively and differently for a whole host of other cancers. And the whole idea is you find the cancer very early and cure the patients before the cancer really takes hold and has the ability to spread so we can save a lot of lives down the road. Brittany Harvey: Absolutely. This germline testing is important not just for the patient, but has wider implications for their families as well, as you mentioned. So then, beyond those recommendations for germline testing, which patients should receive somatic testing with next-generation sequencing technologies? Dr. Evan Yu: So let's talk a little bit about somatic testing. So germline again, as we know, is inherited. The patient inherited it in every single cell in their body, then it becomes very easy, many of these are cancer predispositions for them to lose the other allele and then to have biallelic loss and then develop the cancer. Now, somatic just means it spontaneously occurred. Certainly, it's not going to occur in every cell in the body, but you can get one hit, lose one allele and then lose the other allele. And if that gene is truly carcinogenic and leading to that cancer, then that can have implications potentially for treatment as well. So we recommend that all patients with metastatic prostate cancer also undergo somatic next-generation sequencing testing. We recognize that at this point in time it's only those with metastatic castration-resistant prostate cancer or hormone-resistant prostate cancer, which is a later disease state where there are drugs that may target those mutations, for instance, like PARP inhibitors, but that early identification for a patient population that's fit and that can benefit from these therapies makes sense so that you know it's in place already and you have your treatments outlined and mapped out for the future. So we recommend it for everybody - somatic testing also for everyone with metastatic prostate cancer. Brittany Harvey: Understood. And then when patients are receiving that somatic testing, what is recommended for somatic testing? Primary tumor archival tissue? Fresh metastatic biopsy tissue? Or circulating tumor DNA testing? Dr. Evan Yu: We recommend that in the initial setting when you're first diagnosed, that archival tissue samples are fine and preferred. But circulating tumor DNA is good when there's no accessible archival tissue, or if the archival tissue, let's say, is very old and it's been sitting around for a long time, or you can't get it anymore because it's many years back when maybe a patient had a prostate needle biopsy. So if it's not accessible, then we recommend ctDNA. We believe that is preferred and also that ctDNA is recommended in a situation where you can't easily biopsy a metastatic site. Sometimes it's just not in a safe area to go after. Sometimes it's just a small lesion. So in general, we recommend tissue when available, and when we think that the tissue sample will yield clean results, if not, then we recommend doing ctDNA at that point in time. Brittany Harvey: So you have described who should get germline and somatic genomic testing. But what are the therapeutic impacts of this germline or somatic testing for single gene genetic variants? Dr. Evan Yu: We pulled this panel together and we met like every single month for like 12 months straight, and part of it was to review the literature. And as part of this literature review, we were able to pull a whole bunch of different trials. I think there was like 1713 papers we identified in the literature search. Eventually, we narrowed it down because with ASCO, we want to present the data with the highest level evidence, level 1 evidence, randomized controlled prospective data. And after reviewing 1713 papers, we narrowed it down to 14 papers. With those 14 papers, if you look at it, there are a lot of things that we think may have implications for treatment or prognosis, but we didn't feel was the highest level of evidence that we could support. So the things that have the highest level of evidence that we can support are certain DNA repair gene alterations, especially BRCA2, and treatment with PARP inhibitors because there are many PARP inhibitor prospective trials that show progression-free survival benefit and even overall survival benefit. And so that's the type of study that achieved the level of evidence that we could include. So I would say BRCA1 and BRCA2 highest level of evidence and PARP inhibitor use also is included in that. Brittany Harvey: Understood. I appreciate you reviewing those therapeutic options. So then, the last clinical question, which you just touched on briefly, but what are the prognostic impacts of germline and/or somatic testing? Dr. Evan Yu: Whenever you do testing, especially if you use panel testing, you find a lot of information. There's a lot of different mutations and some of which are VUSs (variants of unknown significance) where we don't quite know what it means yet, but we can track that, especially if it's germline. But with somatic, we find lots of things that have implications, but maybe just not treatment implications. A perfect example is p53. p53 is one of the most common tumor suppressor gene mutations on all cancers, but in prostate cancer they can occur and they can usually occur late, although there can even be germline inherited p53 alterations. There's no treatment that targets p53 right now, but we know that if you have a p53 mutation that those patients may have more aggressive disease and that prognostic information is important to give to the patient. And I think it's important for future clinical trial design and direction. So we do not recommend making treatment recommendations or changes based on these prognostic only biomarkers at this point in time. But we do recommend that, based on this, we can design intensification trials for those patients who have these poor risk biomarkers and de-intensification trials for patients who may have a good risk biomarker. So for instance, SPOP is a gene where we think these patients may have better outcomes, they might respond better to certain hormonal therapies like abiraterone. I say might because the level of evidence isn't quite there. But what I would say is that these prognostic only biomarkers, we just don't think they cut the mustard yet to be able to make treatment decisions. But we do think that they can drive counseling for the patient and potential selection and trial design for the future to say, “Okay. This is a patient population that has a more aggressive cancer. We need to be more aggressive in treating these patients.” “This patient population might have a less aggressive cancer. Maybe we can de-intensify and say side effects and quality of life may be better for the patients.” Brittany Harvey: Definitely. It's important for thinking through how to personalize care for these patients. So then you've talked about this a little bit in talking through the recommendations, but could you expand on what is the importance of this guideline and how it will impact both clinicians and patients with metastatic prostate cancer? Dr. Evan Yu: Yeah, I think the number one thing is awareness. I think the data's out there and people that are in my field, they know this. But by evidence of the fact that it's not first-line presentation lingo that everyone's talking about things like BRCA status, it means it hasn't necessarily disseminated all the way through. So it's increasing awareness of the fact that both germline and somatic alterations can occur and that these may have impacts on the patient for their treatment and their prognosis, and basically to increase testing for the future. I really think that in the future, there'll be other reasons that we may want to serially even retest and we may find that there may be mutations that develop as mechanisms of resistance that might guide therapy down the road. So we need to get people to start doing this for everyone with metastatic prostate cancer, because someday we might be doing it not just once, but over and over again. Brittany Harvey. Absolutely. We hope this guideline reaches a wide audience and that these recommendations can be put into practice. Finally, you've talked about how not all the data in the field has yet risen to the level of evidence that made it into the guidelines. So what are the outstanding questions in future research areas for both germline and somatic genomic testing for metastatic prostate cancer? Dr. Evan Yu: It was in our discussion, but it clearly- it's not common enough for there to be randomized prospective trials that would reach that level of evidence to make it in this guideline recommendation. But we all know that for any solid tumor, you can get mismatched repair deficiency, microsatellite instability leading to hypermutation or high tumor mutational burden. And that happens in maybe 3 to 5% of patients with metastatic prostate cancer as well. There is evidence and data that these patients can potentially benefit from immunotherapies like pembrolizumab. But again, it's just not common enough for there to be those randomized prospective controlled trials out there. But we mention it because we know it's FDA-approved across all the tumor types, so we felt like we have to mention it because that's something that has treatment implications for the patient. But also, I alluded to this earlier, I think an area of active investigation is the tried and true number one driver of prostate cancer, which is androgen receptor. Testosterone binds to androgen receptors, stimulates it. That's how androgen deprivation therapy works. That's how abiraterone and the amides like enzalutamide, apalutamide, darolutamide, that's how they all work. But even beyond that, we're starting to identify that maybe 15%, 20% of patients with metastatic castration resistant prostate cancer have androgen receptor mutations. And there are newer classes of therapies like androgen receptor degraders like CYP11A1 antagonist that lead to complete adrenal annihilation of other steroid hormones that might promiscuously stimulate these androgen receptor mutants. These things develop as mechanisms of resistance, and in the future, we might want to serially test- and that's an active area of investigation in the future, to say you've been treated, let's say, with androgen deprivation therapy and abiraterone for years. There are certain mutations that might develop as a resistance mechanism. We might need to serially test somebody because you didn't have that mutation earlier on, but later in the disease course you might. And then there might be a new drug X out there that we would want to use. Again, we need the data, we need the randomized prospective controlled trials, but they're happening out there. And somewhere down the road we may rewrite this guideline and have a lot more recommendations to add to it. Brittany Harvey: Yes, we'll look forward to more research in this field to better provide targeted therapies for patients with metastatic prostate cancer across the treatment paradigm. And we'll look forward to report outs from those trials that you mentioned. So I want to thank you so much for your work to develop this guideline and thank you for your time today, Dr. Yu. Dr. Evan Yu: Thank you so much. It's wonderful to be here today. Brittany Harvey: And thank you to all of our listeners for tuning in to the ASCO Guidelines podcast. To read the full guideline, go to www.asco.org/genitourinary-cancer-guidelines. You can also find many of our guidelines and interactive resources in the free ASCO Guidelines app, which is available in the Apple App Store or the Google Play Store. If you have enjoyed what you've heard today, please rate and review the podcast and be sure to subscribe so you never miss an episode. The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.
In this episode, Bahar Etminan speaks with Krystal Barter, a leading advocate for women's health, to discuss her remarkable journey and the broader challenges surrounding BRCA1, breast cancer, and medically induced menopause. Krystal shares her personal experience of being diagnosed with the BRCA gene mutation, her proactive approach to managing her health, including surgeries and hormone replacement therapy, and her mission to empower women through education and support. The conversation delves into Krystal’s advocacy work with Pink Hope, her role in creating awareness around genetic testing, and her upcoming event, So Hot Right Now, which addresses menopause in a holistic and empowering way. Together, they explore the future of genomics in healthcare, legislative changes concerning genetic rights, and how women can take control of their health through knowledge and community. With insights from leading experts, this episode shines a light on the importance of open dialogue about women's health, genetic predispositions, and proactive steps towards longevity and wellness. Tickets for So Hot Right Now Event available here: So Hot Right Now | Sydney Opera House Chapters00:00 - Introduction and Personal Journey06:59 - Advocacy and the Menopause Movement11:53 - So Hot Right Now: A Menopause Extravaganza17:56 - Expert Insights on Menopause19:13 - Celebrating Wellness Icons20:01 - Advocacy in Genetic Testing23:42 - The Future of Genomics in Healthcare26:20 - Legislation and Genetic Rights29:54 - Navigating Genetic Testing for Families34:20 - Empowering Women Through Knowledge38:43 - Rallying for Women's Health Advocacy Watch the whole episode here: https://youtu.be/S_9ZnsiC4gsSee omnystudio.com/listener for privacy information.
Liz & Becca tackle the controversial topic of breast cancer and BRCA gene mutations. They break down the science behind BRCA1 and BRCA2, the truth about genetic predisposition, and why these genes don't have to define your future. From lifestyle changes and diet to safer testing methods and informed consent, this episode equips you with the knowledge to make empowered decisions. Whether you're navigating genetic testing, considering preventive measures, or just curious about breast cancer risk, this episode provides practical insights and a dose of much-needed hope.
In this holiday re-broadcast, Romance novelists Elle Everhart and Ellie Palmer join co-hosts V.V. Ganeshananthan and Whitney Terrell to talk about the genre's increasing popularity. Everhart, the London-based author of the new book Hot Summer, featuring a protagonist who joins the cast of a reality show only to realize she's interested in a fellow contestant, discusses coming to romance writing as a fourth grader fascinated by kissing, and wonders why as sales boom, the U.S.—but not the U.K.—is seeing more romance-specific bookstores. Palmer, the author of the new book Four Weekends and a Funeral, whose main character is a carrier of the BRCA1 mutation, recalls falling in love with the genre as she prepared for her own preventative double mastectomy. She reflects on how the genre's structure promises positive endings for those who need them at challenging moments, and how the language of romance gave her a way to think about her own body and sexuality. Everhart reads from Hot Summer and Palmer reads from Four Weekends and a Funeral. To hear the full episode, subscribe through iTunes, Google Play, Stitcher, Spotify, or your favorite podcast app (include the forward slashes when searching). You can also listen by streaming from the player below. Check out video versions of our interviews on the Fiction/Non/Fiction Instagram account, the Fiction/Non/Fiction YouTube Channel, and our show website: https://www.fnfpodcast.net/ This episode of the podcast was produced by Anne Kniggendorf. Elle Everhart Hot Summer Wanderlust Ellie Palmer Four Weekends and a Funeral Others "9 New Books We Recommend This Week" | May 4, 2023 | The New York Times "Hot and Bothered: Four New Romance Novels" by Olivia Waite | August 7, 2020 | The New York Times Nora Ephron Nancy Meyers Mhairi McFarlane Beth O'Leary Talia Hibbert Bolu Babalola “A Romance Bookstore Boom” by Olivia Waite | The New York Times “Emily Henry is Proud to be Called a Romance Writer” by | The New York Times Olivia Waite Jodi Picoult Love Island Tropes & Trifles Learn more about your ad choices. Visit megaphone.fm/adchoices
Breast cancer diagnoses in younger women (under 50) have been steadily increasing over the past two decades, with a notable rise in recent years. From 2010 to 2019, there was an 8% increase in breast cancer diagnoses in women under 50. During this age, the early 40s, breast cancer is more aggressive and more challenging to detect early. With that in mind, what are the markers to watch for and preventive strategies to ensure you and your family won't develop breast cancer?In this episode, Dr. Stephanie Nielsen is joined by Alison Myers, founder of AIVM Consultants, a distinguished figure in the realm of personal growth and business development – a visionary whose unique blend of experience, insight, and unconventional methods have marked a pioneering presence in the coaching and consulting landscape. Together, they discuss the importance of looking into family history, lifestyle choices, and the importance of genetic testing in order to explore common genetic markers such as BRCA1 and BRCA2 mutations. They dive deeper into this by looking into the case of Olivia Munn to look into how advanced screening led to her diagnosis and what you can do better as compared to a mastectomy.▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬If you wish to learn more about Alison Myers and AIVM Consultants, you may do so through the following link: https://aivmconsultants.com/▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬Keep yourself up to date on The DNA Talks Podcast! Follow our socials below:The DNA Talks Podcast Instagram https://www.instagram.com/dnatalkspodcast/Dr. Stephanie Nielsen's website https://www.wishinguwellness.com/▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬Music: Inspiring Motivational Background by Stock-Waveshttps://www.stock-waves.com/https://protunes.net/Video Link: https://www.youtube.com/watch?v=pbwVDTn-I0o&list=PLQtpqy3zeTGB7V5lkhkfBVaiZyrysv_fG&index=5▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬▬Music: Peaceful Corporate by Stock-Waveshttps://protunes.net/Video Link: https://www.youtube.com/watch?v=I34bTKW8ud0&list=PLQtpqy3zeTGB7V5lkhkfBVaiZyrysv_fGMedical Disclaimer: The information provided in this communication is for general informational purposes only and is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read here. If you think you may have a medical emergency, call your doctor or 911 immediately.
Triple-negative breast cancer (TNBC) accounts for 15-20% of all breast cancers. It affects younger women, women of African descent, and those with BRCA1 mutations. TNBC is highly complex, with distinct subtypes that may respond differently to treatments. Recent advancements include immunotherapies, androgen receptor inhibitors, platinum-based drugs, antibody-drug conjugates, PARP inhibitors, and combination therapies. These podcast episodes address educational gaps in TNBC management, offering interactive cases, discussions on emerging treatments, and strategies to improve patient outcomes.Launch Date: December 5, 2024Release Date: December 5, 2024Expiration Date: November 30, 2025FACULTYAditya Bardia, MD, MPH, FASCOAssociate Professor, Medicine, Harvard Medical SchoolAttending Physician, Medical Oncology, Massachusetts General HospitalDana-Farber/Harvard Cancer Center, Boston, MARita Nanda, MDAssociate Professor of MedicineDirector, Breast Oncology ProgramThe University of Chicago Medicine Chicago, ILThis podcast provides accredited continuing education credits. To receive your credit, please read the accreditation information provided at this link below prior to listening to this podcast.https://www.practicepointcme.com/CMEHome/talking-tnbc-advancing-treatment-in-triple-negative-breast-cancer-latest-insights-and-clinical-strategies-19
Triple-negative breast cancer (TNBC) accounts for 15-20% of all breast cancers. It affects younger women, women of African descent, and those with BRCA1 mutations. TNBC is highly complex, with distinct subtypes that may respond differently to treatments. Recent advancements include immunotherapies, androgen receptor inhibitors, platinum-based drugs, antibody-drug conjugates, PARP inhibitors, and combination therapies. These podcast episodes address educational gaps in TNBC management, offering interactive cases, discussions on emerging treatments, and strategies to improve patient outcomes.Launch Date: December 5, 2024Release Date: December 5, 2024Expiration Date: November 30, 2025FACULTYAditya Bardia, MD, MPH, FASCOAssociate Professor, Medicine, Harvard Medical SchoolAttending Physician, Medical Oncology, Massachusetts General HospitalDana-Farber/Harvard Cancer Center, Boston, MARita Nanda, MDAssociate Professor of MedicineDirector, Breast Oncology ProgramThe University of Chicago Medicine Chicago, ILThis podcast provides accredited continuing education credits. To receive your credit, please read the accreditation information provided at this link below prior to listening to this podcast.https://www.practicepointcme.com/CMEHome/talking-tnbc-advancing-treatment-in-triple-negative-breast-cancer-latest-insights-and-clinical-strategies-19
Triple-negative breast cancer (TNBC) accounts for 15-20% of all breast cancers. It affects younger women, women of African descent, and those with BRCA1 mutations. TNBC is highly complex, with distinct subtypes that may respond differently to treatments. Recent advancements include immunotherapies, androgen receptor inhibitors, platinum-based drugs, antibody-drug conjugates, PARP inhibitors, and combination therapies. These podcast episodes address educational gaps in TNBC management, offering interactive cases, discussions on emerging treatments, and strategies to improve patient outcomes.Launch Date: December 5, 2024Release Date: December 5, 2024Expiration Date: November 30, 2025FACULTYAditya Bardia, MD, MPH, FASCOAssociate Professor, Medicine, Harvard Medical SchoolAttending Physician, Medical Oncology, Massachusetts General HospitalDana-Farber/Harvard Cancer Center, Boston, MARita Nanda, MDAssociate Professor of MedicineDirector, Breast Oncology ProgramThe University of Chicago Medicine Chicago, ILThis podcast provides accredited continuing education credits. To receive your credit, please read the accreditation information provided at this link below prior to listening to this podcast.https://www.practicepointcme.com/CMEHome/talking-tnbc-advancing-treatment-in-triple-negative-breast-cancer-latest-insights-and-clinical-strategies-19
In this JCO Precision Oncology Article Insights episode, Miki Horiguchi summarizes two articles: “Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening,” by Dr. Kate I. Glennon et al. published on August 01, 2024, and "Incidental Pathogenic Variants in Renal Cell and Urothelial Carcinoma: Is It Time for Universal Screening?” by Dr. Salvador Jaime-Casas, et al. published on August 01, 2024. TRANSCRIPT Miki Horiguchi: Hello and welcome to JCO Precision Oncology Article Insights. I'm your host Miki Horiguchi, an ASCO Journal's Editorial Fellow. Today, I'll be providing summaries of the article titled, "Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening,” by Dr. Kate Glennon and colleagues. In the accompanying editorial titled, “Incidental Pathogenic Variants in Renal Cell and Urothelial Carcinoma: Is It Time for Universal Screening?” by Dr. Salvador Jaime-Casas and colleagues. Renal cell carcinoma (RCC) exhibits distinct clinical characteristics across its histological subtypes. Clear cell RCC accounts for approximately 75% of cases while the remaining non-clear cell RCC encompasses a diverse group of histology. Although a family history has been known to double the risk for RCC, genetic susceptibility, particularly across different histological subtypes and defined operations, has not been investigated well. Dr. Glennon and colleagues sought to identify risk genes for RCC within the Canadian population and investigate their clinical significance in comparison to cancer-free control populations. The authors conducted targeted sequencing of 19 RCC related genes and 27 cancer predisposition genes for 960 RCC patients in Canada. DNA samples were collected through the Ontario Tumour Bank between 2005 and 2019. For comparisons across histological subtypes, the cohort was divided into 759 patients with clear cell RCC and 201 patients with non-clear cell RCC, including all histological subtypes other than clear cell RCC. Non-cancer control data were obtained from a publicly available database which included over 118,000 cases from the European population. A total of 39 different germline pathogenic variants were identified in 56 patients representing 5.8% of the Canadian cohort. There was no significant difference in the overall number of germline pathogenic variants between the two groups. The most commonly identified germline pathogenic mutations were CHEK2, ATM/BRCA2 and MITF in the clear cell RCC group, and FH and CHEK2 in the non-clear cell RCC group. Compared to the non cancer control data, germline pathogenic variants in CHEK2 and ATM were significantly associated with an increased risk of developing clear cell RCC, while those in FH were significantly associated with non clear cell RCC. According to the bivariate association analysis between the presence of germline pathogenic variants and clinical characteristics, patients with metastatic RCC were strongly associated with pathogenic variants in BRCA1, BRCA2, and ATM. No other significant associations were observed. The authors then evaluated variations in germline pathogenic variants among RCC patients across the world using similar studies conducted in Canada, Japan, the United Kingdom, and the United States. Specifically, they compared the gene burden for significantly mutated genes in each of the cohorts against all other cohorts combined. Compared to the other cohorts, RCC patients from Japan were enriched for pathogenic variants in TP53 and depleted for pathogenic variants in CHEK2. The United States cohorts showed higher frequencies of patients with pathogenic variants in BAP1 and FH genes compared to other cohorts. In contrast, RCC patients from Canada and the United Kingdom were not enriched for any specific genes when compared with the other cohorts. After characterizing germline susceptibility to RCC, the authors evaluated how many of the RCC patients in the Canadian cohort did not meet existing referral criteria for genetic screening based on current clinical guidelines, aiming to help refine these guidelines. Among the 56 RCC patients with identified germline pathogenic variants in the Canadian cohort, 73% did not meet the referral criteria for genetic screening under current Canadian guidelines. The authors also applied the UK guidelines and the US American College of Medical Genetics guidelines to the same 56 RCC patients. Under these criteria, 80% and 64%, respectively, were not eligible for genetic screening. In an exploratory analysis, the authors examine the impact of raising the Asia onset threshold from less than 45 years to less than 50 years. This revision captured an additional five patients with pathogenic variants. In addition to more inclusive genetic screening guidelines, the study results suggest that expanding the current list of genes to include additional relevant genes such as BRCA1, BRCA2, CHEK2 and ATM could help identify more RCC patients who are affected by rare germline pathogenic variants in Canada. The authors concluded that these revisions would enable the identification of a higher number of at-risk patients and improve the management of RCC patients. In the associated editorial accompanying this research article, Dr. Salvador Jaime-Casas and colleagues emphasized that the findings from Dr. Glennon and colleagues' study are particularly worrisome as most RCC patients with incidental pathogenic variants are not being referred for genetic screening. Building on results from previous studies, the authors suggested the need to revisit and update the current screening guidelines for RCC patients. The authors also highlighted findings from other studies showing the prevalence of pathogenic variants in CHECK2, BRCA1, and BRCA2 at up to 6% in RCC patients and 11% in upper tract urothelial carcinoma patients. They noted that these rates are comparable to those of ovarian cancer and pancreatic cancer, which already have universal screening guidelines. The authors also discuss some challenges. While the prevalence of pathogenic variants is crucial for evaluating the impact of germline genetic testing, it's only one factor in devising screening guidelines for RCC and urothelial carcinoma. They emphasize the need for robust clinical trials to evaluate therapeutics targeting these pathways, as well as the importance of characterizing incidental pathogenic variants to guide patient selection for these trials. Thank you for listening to JCO Precision Oncology Article Insights and please tune in for the next topic. Don't forget to give us a rating or review and be sure to subscribe so you never miss an episode. You can find all ASCO shows at asco.org/podcasts. The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.
Follow @tinamblackpmts on Instagram and email tina@tinablack.net. Join our Facebook Group: HERE Gina Marie Burris is a children's book author/blogger that lives in a small riverside community in Western Pennsylvania. She has a love for cooking, traveling, spending warm summer days on the river, maintaining positive relationships with those she holds dear, spreading awareness about cancer prevention, and collecting memories instead of material possessions. Gina Marie is a humbled BRCA1 “Previvor.”. With zero known family history of breast or ovarian cancer, Gina discovered her positive BRCA1 status via the Direct-to-Consumer Genetic Test, 23andme. After speaking to an incredible genetic counselor and confirming that she did in fact carry the mutation, she worked closely with a skilled team of health care providers and chose to take the path to prevention. Having such a high risk of developing cancer, she will be forever grateful to 23andme for giving her the opportunity to be proactive instead of reactive in her healthcare choices. Gina was inspired by others who had made similar choices, and she decided the best way to give back to the BRCA community was to blog about her own experiences. Gina's blog chronicles her journey from the beginning and gives you an honest and sometimes humorous look into what the path to prevention and life after surgeries looks like. You can find the blog at: https://rivergirlreflections.com/ In addition to blogging, Gina felt passionate about creating a handheld book women could take with them as they navigated their own road. What started as an idea, turned into a 130-page companion book, titled BRCA BRCA 1-9. It is filled with educational components, motivation, organization suggestions and one-of-a kind activities to help women stay in a positive space when the days feel dark. She likes to think of the book as a silent friend, placed in the reader's hand to encourage and cheer her on. Books can be ordered through Amazon or directly from Gina Marie. https://www.amazon.com/BRCA-1-9-Womans-Guide/dp/B0CGL39373/ref=sr_1_1?crid=34HQZ975VSJ13&dib=eyJ2IjoiMSJ9.tZ5-0k-oL3Il1DMOx7ArJM0x0Y4uO_9PL5XuQoTlNTU.EmoNMimtJcdMI5QZIXhuW0SvLnAE7j1X8HFXejAEmIM&dib_tag=se&keywords=brca+brca+1-9&qid=1717594043&sprefix=brca+brca+1-9%2Caps%2C125&sr=8-1
Welcome back, Keep Grief Weirdos! In this special mid-break episode, Tracy and MC dive into heartfelt listener letters, share big announcements, and explore the often-overlooked layers of grief—from sibling loss and parental relationships to the challenges of coping during the holiday season. One listener writes in about navigating sibling loss and the emotional complexities of carrying a BRCA1 mutation, sparking a candid discussion about health anxiety, generational grief, and the resilience required to move forward. Another wrote reflecting on the loss of a dream as his daughter builds a life across the country — a poignant reminder that grief isn't always about death but often about the changes in relationships and expectations. Another letter gives us a deeply moving story of finding peace and healing through a serendipitous connection with someone who bridges the divide between life and the afterlife—proof that sometimes the universe works in mysterious ways. A final letter wrote about how hard it can be to let go of the stuff left behind when life circumstances don't allow us to keep them.At the end of the episode, Tracy & MC have a couple of announcements! Upcoming LIVE Events: Holiday Survival Workshop: Join us on December 14th for a live, interactive online workshop to create a customized holiday toolkit and learn practical strategies to approach the season with balance and intention. 2025 Intention Setting Workshops: Set your sights on the new year with our in-person workshop on January 4th and a virtual session on January 11th. We'll help you craft a roadmap for manifesting your goals and staying grounded Join the Hope Circuit!We have a vibrant and supportive online community for you! It is the perfect space to connect with others navigating grief, loneliness, or life transitions. From weekly accountability calls to journaling sessions and bi-weekly movie nights, there's something for everyone seeking support, connection, and a little holiday cheer. Sign up here: https://hopecircuit.circle.so/checkout/all-access Have a woo-woo story or a topic you'd love us to cover in Season 2? Send us an email at keepgriefweird@gmail.com, drop us a voicemail on Spotify, or reach out via social media. Let's keep grief weird together! Stay tuned, stay weird, and don't forget to mark your calendars! Check out Keep Grief Weird on Substack for exclusive episode notes, resources, and opportunities to connect! Instagram: - @keepgriefweird - @mc.phd - @shutterbean - @thehandwritingclub TikTok: - @mc.phd Facebook: - @tracyshutterbean - @emseyphd Music kindly provided by Tom Rosenthal. The song excerpted at the beginning and end of each episode is "Have We Met Before? feat. Fenne Lily" from the album Z-Sides, released in 2018. MC McDonald and Tracy Benjamin host Keep Grief Weird, produced by Tracy Benjamin. For questions, stories, or comments, please reach out via DM on Instagram (@keepgriefweird) or email at keepgriefweird@gmail.com.
In this JCO Precision Oncology Article Insights episode, Mitchell Elliot summarizes the article “Talazoparib in Patients With Solid Tumors With BRCA1/2 Mutation: Results From the Targeted Agent and Profiling Utilization Registry Study” by Dr. Jordan Srkalovic et al. published on June 12th, 2024. TRANSCRIPT Mitchell Elliott: Hello, welcome to JCO Precision Oncology Article Insights. I'm your host Mitchell Elliott, an ASCO Journals Editorial Fellow. Today I'll be providing a summary of the article titled, “Talazoparib in Patients With Solid Tumors With BRCA1/ 2 Mutation: Results From the Targeted Agent and Profiling Utilization Registry Study,” by Dr. Jordan Srkalovic et al. The Targeted Agent and Profiling Utilization Registry Study is a phase 2 basket trial evaluating the anti-tumor activity of commercially available targeted agents in patients with advanced cancer and genomic alterations known to be drug targets. Results of a cohort of patients with various solid tumors with germline or somatic BRCA1 and 2 mutations treated with talazoparib are reported. BRCA1 is involved in both non homologous end joining, and homologous recombination, while BRCA2 primarily facilitates homologous recombination. These mutations are present in a range of cancers including breast, ovarian and pancreatic cancers, making them key targets for therapies that inhibit poly (ADP-ribose) polymerase or PARP, a family of proteins critical for DNA repair. PARP inhibitors like talazoparib have shown promise in treating cancers with BRCA mutations as they prevent tumors from repairing DNA damage, thus promoting cell death. Many PARP inhibitors are standard of care in both early and advanced cancers. Talazoparib was previously FDA approved for BRCA related HER2 negative breast cancer and prostate cancer. The TAPUR study aims to investigate the effectiveness of talazoparib and other types of solid tumors with BRCA1 and 2 mutations to expand its potential therapeutic applications. Eligible patients had to meet both general and drug specific criteria for inclusion in the study. General eligibility required participants to have advanced or metastatic solid tumors measurable by the RECIST version 1.1 criteria, a performance status of 0 to 2 based on the Eastern Cooperative Oncology Group Scale, and a genomic target identified through certified laboratory testing. Patients with germline or somatic BRCA1 or 2 mutations were eligible, but the genomic test did not always differentiate between these types of mutations. Additional criteria included being age 18 years or older, using effective contraception and avoiding sperm donation at the set period. Exclusion criteria included patients with HER2 negative breast cancer, prior PARP inhibitor treatments, or certain cardiovascular conditions. The study also excluded patients with recent major surgeries, coagulopathy and serious medical conditions, but there were no criteria related to prior platinum therapies. Patients received 1 milligram of talazoparib daily until disease progression, unacceptable toxicity, or other reasons for discontinuation. The primary endpoint of the study was disease control which was defined by achieving either objective response or stable disease lasting at least 16 weeks as assessed by the RECIST criteria. Secondary endpoints included objective response, progression free survival, overall survival, duration of response, duration of stable disease, and safety. The study enrolled 28 eligible patients with 20 different solid tumors that had BRCA1/2 alterations between December 2019 and September 2021 across 19 clinical sites with most patients, about 89%, enrolled from community-based locations in the United States. The most common tumor type was non-small cell lung cancer accounting for 18% of cases. All patients were included in both the safety and efficacy analyses including three with HER2 negative breast cancer and somatic BRCA alterations. Of the 28 patients, nine had tumors with BRCA1 alterations, 16 had BRCA2 alterations and three had both BRCA1 and BRCA2 alterations. Additionally, 64% of patients had tumors with coalterations and at least one DNA damage repair gene. In the study, one patient achieved a complete response, nine patients had partial response and six patients had stable disease for at least 16 weeks. The overall disease control rate was 57% with an objective response of 36%. The study rejected the null hypothesis of a 15% disease control rate with high statistical significance with a p-value of less than 0.001. The median progression free survival was 24 weeks and median overall survival was 71 weeks. Interestingly, among the 19 patients who received prior platinum-based chemotherapy, 5, or about 26%, had a partial response and 4 had stable disease while on talazoparib. While platinum therapy exposure can be associated with BRCA reversion mutations, it is notable that these patients achieve stable disease with PARP inhibitor treatment. 46% of the 28 patients experienced grade 3 - 5 adverse events or serious adverse events that were possibly related to talazoparib. 14% of patients had possible drug related serious adverse events which included conditions such as anemia, neutropenia, leukopenia, nausea and vomiting. More severe grade 4 or 5 events included anemia, neutropenia, thrombocytopenia, leukopenia, hyponatremia, and increased level of the aspartate aminotransferase and bilirubin. In conclusion, this study demonstrates that talazoparib shows significant antitumor activity in patients with advanced solid tumors carrying both BRCA1 and BRCA2 mutations, even in cancers beyond those for which PARP inhibitors are currently FDA approved. The disease control and objective response rates indicate promising results in heavily pretreated patients who have no standard treatment options left. The findings suggest that PARP inhibitors like telazoparib could be effective in a broad range of cancers, including non-small cell lung cancer, mesothelioma and hepatocellular carcinoma where PARP inhibitors are not yet approved. This could pave the way for expanding the use of these drugs in precision oncology. While talazoparib showed efficacy, the study also reported a notable incidence of grade 3 to 5 adverse events, highlighting the need for careful management of side effects, particularly in heavily pretreated patients. The study calls for further research, particularly in randomized controlled trials to confirm the efficacy of talazoparib in other cancers beyond what is currently approved. It also suggests investigating the effect of DNA damage repair gene alterations and exploring combinations of PARP inhibitors with other targeted therapies. Additionally, further studies are needed to understand the potential differences in response between BRCA1 and BRCA2 mutations. Thank you for listening to JCO Precision Oncology Article Insights and please tune into the next topic. Don't forget to give us a rating and review and be sure to subscribe so you never miss an episode. You can find all ASCO shows at www.asco.org/podcasts. The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity or therapy should not be construed as an ASCO endorsement.
Our DNA is made up of 3000 million letters of code. They make up genes within our DNA and are responsible for how cells in our body grow and multiply. But what happens when something in that code goes wrong? Welcome to another episode of That Cancer Conversation, a podcast from Cancer Research UK that brings together the science and the stories behind cancer. In this episode, Sophie will be looking at the human genome and explore how changes in our DNA can increase our risk of getting cancer. Prof Mike Stratton, former director of the Wellcome Sanger Institute and a pioneer in cancer genetics, helps unpack this question and tells us how he and his team persevered to find the second BRCA gene (BRCA2) and its mutation. It's been 30 years since the discovery of the first BRCA gene, BRCA1. Sophie sits down with Maria, her sister, Chrissy, and their mother, all who were tested positive for the BRCA2 gene mutation. They discuss their cancer stories and how the life-changing discovery of the BRCA genes has affected them as a family. Read more cancer stories on Cancer NewsYou can donate to Cancer Research UK here Hosted on Acast. See acast.com/privacy for more information.
Jessica Ordonez, certified genetic counselor and Medical Science Liaison at Myriad Genetics explains genetics' role in breast cancer and how the MyRisk® with RiskScore® tests can help you better understand your 5-year and lifetime risk. You'll learn what you need to know about different kinds of genetic factors, including the impact of changes in genes like BRCA1, BRCA2, CHEK2, and others. Uncover the fallacy that you aren't at risk if you don't have “the BRCA gene.” We'll also discuss how a genetic counselor can guide you if your results show a high lifetime risk. If you have a family history of cancer or are simply curious about your genetic health, this episode offers insights into genetic testing, risk factors, and empowering yourself with knowledge.For more resources, visit our website: SheMDpodcast.comFollow us across social media: @SheMDpodcastSponsor:Knowing your family's history of cancer is the first step to understanding your own cancer risk and may qualify you for the MyRisk Hereditary Cancer Test with RiskScore hereditary cancer test. It's easy, accurate and covered by most insurers. Learn more at GetMyRisk.com, https://myriad.ws/getmyriskIN THIS EPISODE: [1:06] Jessica describes the role of a genetic counselor and a medical science liaison[2:51] Discussion of genetic markers and BRCA1 and BRCA2 genes[13:41] The difference between gene mutations and variants of uncertain significance[23:16] Explanation of the CHEK2 gene[27:11] How would a genetic counselor counsel a woman whose genetic test comes back with a high lifetime riskRESOURCES:Myriad Genetics InstagramGet MyRisk WebsiteGUEST BIOGRAPHY: Jessica Ordonez is a certified genetic counselor and Medical Science Liaison at Myriad Genetics. She holds diplomate status with the American Board of Genetic Counseling and is an active member of the National Society of Genetic Counselors and the Florida Association of Genetic Counselors.Jessica completed her undergraduate and graduate studies at the University of Michigan, earning a Bachelor's in Cell & Molecular Biology and Spanish Literature and a Master's in Genetic Counseling. With over a decade of experience as a clinical genetic counselor, she has provided care in pediatric, adult, and cancer genetics clinics within academic and private hospital settings, focusing on Spanish-speaking patients.As a Medical Science Liaison, Jessica educates clinicians across Florida on hereditary cancer and reproductive genetics. She is involved in several company projects at Myriad, specifically leading a needs assessment for patient-facing Spanish resources to enhance inclusiveness and equity in care.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Linda Petticrew's battle with breast cancer at 34, and her daughter Rachel Evans' decision to have a prophylactic mastectomy at 25, reveal a narrative of resilience and proactive health decisions. Diagnosed with the BRCA1 gene, Rachel chose surgery as a precaution, influenced by her mother's experience with the disease. Their story highlights the importance of genetic testing and the strength found in family support. Key Questions Answered What is the relationship between Linda Petticrew and Rachel Evans? Linda underwent mastectomies due to being diagnosed with breast cancer, while Rachel had a prophylactic mastectomy due to testing positive for the BRCA1 gene. At what ages were Linda and Rachel when they had their mastectomies? Did anyone else in Linda's family have breast cancer prior to her diagnosis? How did Linda feel when she found out Rachel tested positive for the BRCA gene? How did the recovery experiences differ between Linda and Rachel? How did Rachel share her decision to undergo a prophylactic mastectomy and its implications? Timestamped Overview 00:00 Mother and daughter discuss their mastectomies experiences.05:16 Grateful for urging timely, crucial conversation, answers.08:32 Thankful for company benefits during hospital stay.11:32 Posted about BRCA gene on Instagram: questions followed.15:26 Shell supportive during cancer, knee replacement recovery.19:18 Mobile services provided for convenient health testing.21:40 Executive assistants supporting education, philanthropy in Houston.26:44 Podcast about breast health by The Rose. Support The Rose HERE. Subscribe to Let's Talk About Your Breasts on Apple Podcasts, Spotify, iHeart, and wherever you get your podcasts.See omnystudio.com/listener for privacy information.
In this episode we welcome Kristina Coccoluto to our PodFam for another amazing episode that's part of our Breast Cancer Awareness Month series. Kristina Coccoluto (14:30) shares her inspiring journey as a BRCA1 pre-vivor and melanoma cancer survivor. She discusses her early experiences with running, the challenges she faced with her health, and how she turned to running as a source of empowerment. Kristina opens up about her decision to undergo preventive surgeries, the emotional impact of her diagnosis, and how she found strength in community and family support. Her story culminates in her participation in the world major marathons, including the Boston Marathon, as a testament to resilience and hope. In this engaging conversation, Kristina Coccoluto shares her journey of self-discovery and purpose through storytelling, particularly in the context of her experiences with marathons and cancer awareness and speaking at multiple events. She discusses the challenges she faced, the importance of positive self-talk, and her advocacy for breast cancer awareness. Kristina's story is one of resilience, personal growth, and the power of sharing one's narrative to inspire others.Kristina's InstagramDuring The Tros, hosts Knute and Erika recap their weekend, including Erika's participation in the Bay State Marathon. Knute and Erika discuss their Halloween plans, including costume ideas and party preparations. They share updates on their running motivation and training, including a community member's injury and the support they received. The conversation shifts to a discussion about the recent SpaceX rocket launch and the fascinating technology behind it. The episode concludes with light-hearted banter and humor, showcasing the fun dynamic between the hosts.TakeawaysKristina's journey emphasizes the importance of sharing personal stories to inspire others.Running became a tool for Kristina to connect with herself and manage her health challenges.Facing a cancer diagnosis can lead to life-changing decisions and actions.Understanding genetic risks, like BRCA mutations, is crucial for proactive health management.Preventive surgeries can be a powerful choice for those at high risk of cancer.Community support plays a vital role in overcoming health challenges.Training for marathons can serve as a metaphor for resilience and determination.The emotional impact of health scares can be profound and long-lasting.Finding joy in running can be a source of empowerment and healing.Sharing experiences can help break the stigma around discussing health issues. Kristina discovered her purpose through storytelling.Sharing her story helped her connect with others.She faced significant challenges while training for marathons post-surgery.Positive self-talk was crucial in overcoming self-doubt.Advocacy for cancer awareness is a key part of her journey.She emphasizes the importance of community support in fundraising.Kristina's experiences highlight the emotional aspects of running marathons.She learned to embrace vulnerability in her speaking engagements.Her journey reflects the power of resilience and determination.Kristina aims to inspire others to take charge of their health.Strava GroupLinktree - Find everything hereInstagram - Follow us on the gram YouTube - Subscribe to our channel Patreon - Support usThreadsEmail us at OnTheRunsPod@gmail.com
Dr. Simran Malhotra shares her journey as a BRCA1 previvor and triple board-certified physician, offering insights into proactive cancer prevention and genetic testing. Tune in for practical tips on balancing hormone replacement therapy and making lasting lifestyle changes to enhance well-being and longevity.In this episode we chat about:A Physician's Journey with BRCA1Preparing for Genetic Testing: What You Need to KnowThe Power of Choice in Cancer PreventionBalancing HRT and Lifestyle MedicineRealistic Goals for Lasting Lifestyle ChangeEpisode Resources:Dr. Malhotra's Instagram (Instagram)Dr. Malhotra's website (website)Book Lifestyle Medicine Physicians at Sofia Health (book session)Book Tai Chi, Qigong, meditation, mindfulness, and Yoga classes with Prime (get free trial)Thank you so much for tuning in! If you enjoyed the content, we would love it if you took 2 minutes to leave a 5-star review! The Sofia Unfiltered Podcast by Sofia Health is for general informational and entertainment purposes only and does not constitute the practice of medicine, nursing or other professional health care services, including the giving of medical advice. No doctor/patient relationship is formed. The use of information on this podcast or materials linked from this podcast is at the user's own risk. The content of this podcast is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Users should not disregard or delay in obtaining medical advice for any medical condition they may have. For any health concerns, users should seek the assistance of their health care professionals.
Joining me for a second time on this podcast, Kristina and I reconnect to have an important conversation about breast cancer awareness and early detection. We discuss her early diagnosis of the BRCA1 gene mutation and the steps she took knowing her chances of getting breast and/or ovarian cancer. Kristina also shares how and when other women can be tested. When we spoke the last time she was on the podcast, she shared the story along with her two sisters (one of which was also diagnosed with the gene mutation). The 3 have bonded together to not only bring awareness but to support one another through their surgeries. One of the things they've bonded over is running marathons! They also support and run along side eachother and have just returned from running Berlin! Through this journey Kristina says she has found her voice, thinking at one time that it was possible that cancer might end her life...instead she is out educating, supporting and raising funds for research! Mom Runs Marathon to Cope With Double Mastectomy, Hysterectomy (today.com) 2024 Run Any Race: Mrs. Kristina Coccoluto's Fundraising Page - Run for Dana-Farber (jimmyfund.org)
Join us for an inspiring conversation with Haley, the 'Portrait of Hope' for Strides Against Breast Cancer.Haley shares her remarkable story of being diagnosed with the BRCA1 gene and how she turned fear into strength through running.Discover how running helped her navigate personal challenges, including multiple surgeries, while advocating for women's health and cancer prevention.Learn about Haley's journey towards self-empowerment, resilience, and her passion for promoting safety and advocacy for women in healthcare.This episode celebrates Haley's courage, resilience, and her commitment to shedding light on important issues with glitter, running shoes, and a fearless spirit.Haley Orillion - https://www.facebook.com/haleya.94Races MentionedBras Across the Causeway - https://www.brasacrossthecauseway.org/Making Strides Against Breast Cancer - https://www.cancer.org/involved/fundraise/making-strides-against-breast-cancer.htmlPensacola Half Marathon - https://runyourstory.com/?s=Pensacola+Half+MarathonGattlinburg Half Marathon - https://www.vacationraces.com/half-marathons/great-smoky-mountains/Mississippi Gulf Coast Half Marathon - https://runyourstory.com/?s=Mississippi+Gulf+Coast+Half+MarathonGo Run - https://www.usahealthsystem.com/events/go-runShout OutsCoach BennettTravis Orillion - https://www.facebook.com/travis.orillionSupport the showFor more details on Run Your Story happenings, including signing up for our upcoming training program, visit https://runyourstory.com/For web development, coding tutoring, or tech services, visit https://gaillardts.com/Go Run Your Story and take a piece of this story with you! Follow us on Facebook and Instagram for the latest news on upcoming episodes. Support me on Patreon!Can't wait to hear Your Run Story!! Thank you to all of our Patreon supporters!Kristen RatherSteve TaylorMary TrufantSuzanne CristSuzanne ClarkAnna SzymanskiDave McDonaldKarla McInnisJames ContrattoJordan DuBoseCristy EvansSharonda ShulaNell GustavsonMeredith NationsAllyson SwannChris Strayhorn
“I see myself as an educator first and foremost,” said Bridget Oppong, MD, an OSUCCC-James surgical oncologist who specializes in breast cancer surgery at the Stefanie Spielman Comprehensive Breast Center and is also the deputy director of the James Center for Cancer Health Equity. In this episode, Oppong shares her wealth of knowledge about the importance of self-examinations and breast cancer screenings; advances in surgery, chemotherapy and immunotherapy; radiation; and outreach programs to underserved communities in Columbus and throughout Ohio. “Early detection is saving lives,” she said. “The five-year survival rate for early-stage breast cancer is over 90 percent … [and for women diagnosed with later-stage breast cancer that has metastasized] we can manage their breast cancer and they can still live a long life.” Self-examinations and annual mammogram screenings are the key to early detection. “I always advocate for self-examinations,” said Oppong, who described how often and what to look for during a self exam. “And if you notice anything different, bring it to medical attention immediately, to your primary-care physician or oncologist.” The recommended age for women to begin annual mammograms is 40. “But if you have a family history of breast cancers or any cancers at an early age, I recommend starting mammograms five to 10 years earlier,” Oppong said. “For example, if your sister was diagnosed with breast cancer at 35, I want you to get started at 30 at the latest.” The average age for diagnosis of breast cancer is about 60, but Oppong said more younger women are being diagnosed in recent years. She also explained the significance of the BRCA1 and BRCA2 (the breast cancer inherited mutations) and how having this mutation increases the breast-cancer risk and means starting mammograms earlier and adding MRIs for some patients. She also described how breast feeding can reduce a women's risk of developing breast cancer. As for treatment, “we have seen awesome advances in all three modalities: surgery, medical (such as chemotherapy and immunotherapy) and radiation,” Oppong said. She described some of the advances in surgery, including the nipple-sparing surgery she performs and how she works with plastic surgeons. Oppong is passionate about and determined to reach out to underserved communities. “The advancements are real and are amazing and our focus is to make sure that all women and men have equitable access to all levels of cancer care from screenings all the way through to survivorship.”
BRCA1 mutations dramatically increase the lifetime risk of breast, ovarian, pancreatic, and other cancers, yet most BRCA1-positive patients are not identified until after they have been diagnosed with cancer. At prenatal visits, women often undergo obstetrical prenatal carrier screening that can identify hundreds of genetic mutations which can be passed on to offspring and results in an inherited condition — however, BRCA1 and other autosomal dominant mutations are not included on these screening panels. However, a recent publication (September 2024) and related commentaries have brought this screening possibility to the limelight. There is also new data about endorsing offering the HPV vaccine during the immediate postpartum admission. Is pregnancy becoming a “one-stop shop” ( a “window of opportunity”) for women's care? OK podcast family I think I've set it up enough, now…let's get to it.
Aniek (43) weet sinds 13 jaar dat ze het BRCA1-gen draagt, wat haar kans op borst- en eierstokkanker aanzienlijk verhoogt. Hoewel ze zich lange tijd rustig voelde door jaarlijkse controles, begint ze nu steeds meer te twijfelen of ze niet preventief haar borsten moet laten amputeren. In deze aflevering onderzoekt Aniek samen met Berthold haar angst, schuldgevoelens en zelfbeeld, en hoe die haar beslissing beïnvloeden. Ze ontdekt dat de angst om hysterisch of overdreven te worden gezien, haar ervan weerhoudt om een weloverwogen keuze te maken, terwijl ze eigenlijk naar rust verlangt.Oktober is borstkankermaand. Met deze aflevering willen we daar graag extra aandacht voor vragen. - In Nederland krijgt 1 op de 7 vrouwen borstkanker.- Check regelmatig je borsten. Merk je een verandering op en vertrouw je het niet? Neem dan contact op met je huisarts. - Kijk voor meer informatie op www.kwf.nl/pink-ribbon/borstkanker of www.borstkanker.nl.Shownotes- Monte-Carlo denkfout: De gedachte dat kanzen worden beïnvloed door voorgaande patronen, bv. 10 keer rood moet wel 1 keer zwarte betekenen, wat dus niet zo is.- Trolleyprobleem: Het ethisch dilemma over een treinspoorwissel waarbij je moet kiezen tussen het actief opofferen van één persoon om vijf anderen te redden, wat vragen oproept over morele verantwoordelijkheid en schuld. Wil je ons ook financieel steunen? Ga naar www.petjeaf.com/omdenken. Onze dank is groot! Je kunt de podcast ook op Podimo luisteren.Wil je reageren of heb je een vraag? Mail naar podcast@omdenken.nl.Wil je zelf te gast zijn in de podcast? Ga naar www.omdenken.nl/podcast.
How are cancer, obesity, and diabetes linked? How do diet and lifestyle trump genetic factors in preventing cancer? Actress Angelina Jolie famously had both of her breasts removed in 2013 after finding that she carried the BRCA1 (breast cancer gene 1) mutation, which signals higher risk of breast cancer. “But that's a very crude way of treating the problem,” says Dr. Jason Fung, author of “The Cancer Code,” about the step taken by many women carrying BRCA1 or BRCA2 mutations. Physician and nephrologist (kidney health specialist) Dr. Fung is a leading voice on dietary means to counter chronic disease, including obesity, type 2 diabetes, and cancer. “You haven't targeted the [BRCA] gene ... [instead] you've gone back to the ... growth paradigm and simply cut off the entire tissue,” he says. Dr. Fung joins Vital Signs with Brendon Fallon to present a new lens to see cancer—beyond the “growth paradigm,”which views cancer as a disease of excessive growth, and the “genetic paradigm,” which focuses on cancer's genetic mutations. The new paradigm highlights environmental factors, including what we eat, over genetic factors in preventing and treating cancer. The obesity link to 13 different types of cancer bears testament to this. “And of course, obesity ... doesn't change your genes,” says Dr. Fung. “What it does is it provides that fertile soil for cancer to grow.” We reveal everyday factors that feed cancer and probe whether environment trumps genetics on the cancer risk front for “Cancer Code PART 2” on Vital Signs. ⭕️ Watch in-depth videos based on Truth & Tradition at Epoch TV
Send me a Text Message about the show!This week I welcome back humor writer and memoirist Gila Pfeffer, the author of "Nearly Departed: Adventures in Loss, Cancer, and Other Inconveniences."Gila shares her journey from losing her parents to cancer, discovering she carried the BRCA1 gene, and undergoing a preventative double mastectomy that turned out to be life-saving. Through humor and resilience, Gila tells me how she uses her experiences to advocate for breast cancer awareness and prevention. She also opens up about the role of her Orthodox Jewish faith in her life and writing, offering listeners a unique perspective on community and ritual.We explore the importance of self-advocacy, the power of knowledge, and how small acts of courage can lead to significant personal growth. ✍️ Episode ReferencesGila PfefferInstagram Link to Book:Nearly Departed: Adventures in Loss, Cancer, and Other InconveniencesSharsheretToday.Com ArticleI Hid My Cancer From My Kids, and Here's WhySupport the showKeep up with all things WeSTAT on any (or ALL) of the social feeds:InstagramThreads : westatpodFacebookLinkedInTwitterHave a topic or want to stay in touch via e-mail on all upcoming news?https://www.westatpod.com/Help monetarily support the podcast by subscribing to the show! This is an easy way to help keep the conversations going:https://www.buzzsprout.com/768062/supporters/new
Send us a textCurious about how genetic testing can transform your health journey? Join us for a compelling conversation with Dahlia Attia-King, founder and CEO of Panacea, as we uncover the power of predictive genetic testing. Discover how advancements in genetic research, such as the BRCA1 and BRCA2 genes, are not only revolutionizing our understanding of risks for diseases like cancer and heart disease but also empowering individuals to make informed health decisions. We promise you'll walk away with a deeper insight into the role genetics plays in healthcare and the actionable steps you can take to harness this knowledge.Dahlia shares her inspiring journey from aspiring medical student to trailblazing healthcare innovator, revealing the personal motivations behind Panacea's mission to make genetic testing accessible and actionable. We'll explore the technical differences between direct-to-consumer and clinical genetic testing, with a spotlight on technologies like microarray and next-generation sequencing (NGS). Learn about the significant barriers to access, such as insurance coverage and physician hesitancy, and how Panacea is breaking down these obstacles to bring advanced genetic testing directly to the public.Our discussion is enriched with insights from expert genetic counselors, emphasizing the importance of comprehensive clinical guidance alongside genetic testing. We'll also delve into the critical aspects of data privacy, certifications like CLIA and CAP, and the importance of understanding genetic test results. This episode is a must-listen for anyone interested in the future of preventive healthcare, providing a holistic view of how genetic testing can be a powerful tool in managing and mitigating health risks.Panacea's Website: www.seekpanacea.comDiscount Code: DRNOSEWORTHY20You can listen to the Inflammation Nation podcast on Apple Spotify and all other major podcast platform You can also watch on YouTube. Check out my online store for self-learning/DIY programs for thyroid, gut health and detox. You can use this form to reach out and request an Initial ConsultationVisit my LabShop store to self-order the same tests I use with my one-on-one coaching clients. https://labs.rupahealth.com/store/storefront_3GMxe4pSOCIAL LINKSInstagramFacebookTikTok
Women with a very high risk of breast cancer due to genetic mutations, such as BRCA, may consider risk-reducing bilateral mastectomies to lower their risk of breast cancer. While these prophylactic mastectomies do not completely protect a woman from breast cancer, they lower the risk in women at high risk by at least 90%. When today's guest learned that she was a carrier of the BRCA1 mutation at only age 31, she began preparing for her surgery and found both an escape and a sense of confidence through romance novels where women were embracing self-confidence, self-love and their bodies. Reading romance novels carried her through her recovery and this year, she published her own romance novel, Four Weekends and a Funeral, with a lead character who has also just undergone a double mastectomy. Ellie Palmer is here today to share her story and how a genre of books helped not only bring her joy, but also gave her a language to help discuss her body and what she feared losing.
Send us a Text Message.Ever wondered how a high-stress lifestyle could transform into a health-conscious journey after a life-changing diagnosis? Meet Michelle and Kendall Sandlin, the inspiring mother-daughter duo who share their powerful story on this episode of Test Those Breasts. Michelle, a breast cancer survivor & award-winning writer, opens up about her shift from the chaotic world of freelance writing to prioritizing her health after her diagnosis and the loss of her mother. Her daughter Kendall takes us through her courageous, proactive approach to managing her health by undergoing a double mastectomy and full hysterectomy upon discovering she carried the BRCA1 gene mutation.The brutal realities of chemotherapy are laid bare as we navigate through its demanding cycles and debilitating side effects. We discuss strategies to manage the fatigue and nausea, and the importance of rebranding those grueling "red devil" treatments into "red warriors" to change patients' mindsets. Get practical tips for preparing for treatment, and understand that while chemotherapy itself might be temporary, its aftereffects are long-lasting. This conversation is designed to support and guide new patients through the overwhelming preparatory stages of their treatment journey.Transitioning to MD Anderson for cancer care comes with its own set of emotional and logistical challenges, which Kendall courageously recounts, emphasizing the importance of self-advocacy. We delve into her experience of navigating insurance hurdles to receive preventative care and surgery, and the supportive role MD Anderson played. Hear about the vital role of being a "previvor" and the shared experiences that forge strong connections among those in similar situations. Michelle and Kendall's heartfelt advice underscores the significance of maintaining a positive outlook, being vigilant about health matters, and making impactful lifestyle choices. Their journey is a beacon of hope and practical wisdom for anyone facing a cancer diagnosis. Michelle's bestselling book "Cancer Don't Care" on Amazon is one you won't want to pass up!Contact Michelle:Michelle on FacebookMichelle on InstagramMichelle on Instagram Are you loving the Test Those Breasts! Podcast? You can show your support by donating to the Test Those Breasts Nonprofit @ https://testthosebreasts.org/donate/ Where to find Jamie:Instagram LinkedIn TikTok Test Those Breasts Facebook Group LinkTree Jamie Vaughn in the News! Thanks for listening! I would appreciate your rating and review where you listen to podcasts!I am not a doctor and not all information in this podcast comes from qualified healthcare providers, therefore may not constitute medical advice. For personalized medical advice, you should reach out to one of the qualified healthcare providers interviewed on this podcast and/or seek medical advice from your own providers .
We all know mitochondria is “the powerhouse of the cell” thanks to middle school science class, but when does that mean when we're talking about our overall health and longevity? In this episode, I dive into the fascinating world of mitochondrial health with Dr. Steven Gundry and Dr. Andrew Salzman. We discuss how optimizing mitochondrial function through diet, exercise, and light exposure can dramatically improve your health and energy levels. Plus, we explore the impacts of chronic inflammation, leaky gut, and environmental toxins on our mitochondria and overall well-being. View Show Notes From This Episode Get Free Weekly Health Tips from Dr. Hyman Sign Up for Dr. Hyman's Weekly Longevity Journal Full-length episodes of these interviews can be found here: 4 Non-Negotiables To Boost Energy And Optimize Your Mitochondria Sick And Tired Of Being Sick And Tired? How To Reclaim Your Energy How Supplementing With NMN Can Increase NAD levels, Energy, Reduce Inflammation, And Improve Insulin Resistance After a distinguished surgical career as a professor and chairman of cardiothoracic surgery at Loma Linda University, Dr. Gundry changed his focus to curing modern diseases via dietary changes. He is the author of New York Times bestseller The Plant Paradox, The Plant Paradox Cookbook, The Plant Paradox Quick & Easy,andThe Longevity Paradox,along with national bestsellersThe Plant Paradox Family Cookbook, The Energy Paradox,Dr. Gundry's DietEvolution,andUnlocking the Keto Code, and has had more than three hundred articles published in peer-reviewed journals on using diet and supplements to eliminate heart disease, diabetes, autoimmune disease, and multiple other diseases. He just released his latest book,Gut Check: Unleash the Power of Your Microbiome to Reverse Disease and Transform Your Mental, Physical, and Emotional Health. Dr. Andrew Salzman is a physician, inventor, professor, and biomedical entrepreneur. Dr. Salzman received his medical degree from Harvard University and has spent decades in drug discovery and development, raising over $165M in NIH grants for research. In addition to 50 patents, Dr. Salzman is credited with a breakthrough discovery in cellular DNA repair, which led to the world's first clinical application for successfully treating breast cancer caused by mutations in BRCA1 and BRCA2 genes. Millions of patients are benefiting from discoveries by Dr. Salzman in areas including mitochondrial health, gastrointestinal microbiota, damage caused by inflammation and oxidative stress to human cells and DNA, autoimmune disease, and cancer. This episode is brought to you by Pendulum, Cozy Earth, and SleepMe. Pendulum is offering listeners 20% off their first membership order at pendulumlife.com/farmacy. Discount applied at checkout. Right now, you can save 40% when you upgrade to Cozy Earth sheets. Just head over to CozyEarth.com. Customize your sleep with ChiliPad. Visit sleep.me/DRHYMAN and save up to $315 with code DRHYMAN. Learn more about your ad choices. Visit megaphone.fm/adchoices
Disclosure: We are part of the Amazon Affiliate/LTK Creator programs. We will receive a small commission at no cost if you purchase a book. This post may contain links to purchase books.In this episode of What to Read Next, host Laura sits down with author Ellie Palmer to discuss her love for reality TV, the inspiration behind her new book Four Weekends and a Funeral (https://amzn.to/3SANQyT), and her top book recommendations. From VH1's golden era to current Bravo drama, Ellie shares her insights and excitement about the world of reality television and romance. She also delves into her personal journey with BRCA1 and how it influenced her writing.In This Episode, You'll Hear About:Ellie's deep-rooted love for reality TV and its evolution over the years.Her creative process behind Four Weekends and a Funeral, including personal motivations and inspirations.The balance of joy and hard issues in romance novels.Ellie's top book recommendations and what she's excited about in the literary world.Her take on current Bravo shows and upcoming releases.Books Recommended:Say You'll Be Mine by Naina Kumar (https://amzn.to/3SzZcDb)Flirting with Disaster by Naina Kumar (https://amzn.to/3SB4kac)Beyond Repair by Laura Piper Lee (https://amzn.to/3WOCVEc)When I Think of You by Myah Ariel (https://amzn.to/3A9drIT)The Truth According to Ember by Danica Nava (https://amzn.to/3AcUViN)Take Me Home by Melanie Sweeney (https://amzn.to/46xoxTQ)The Dividing Sky by Jill Tew (https://amzn.to/4du8x7z)Ne'er Duke Well by Alexandra Vasti (https://amzn.to/4fvHfiY)Connect with Ellie Palmer:Instagram: @ElliePalmerWritesTikTok: @ElliePalmerWritesWant to check out more book recommendations?Visit What to Read Next Blog for reader tips, popular books like recommendations and many more posts. Sign up for our free newsletter at whattoreadnextblog.com/newsletter, and you will have access to 150+ Kindle Unlimited Titles that you must add to your TBR ASAP.Music from #Uppbeat (free for Creators!): https://uppbeat.io/t/mood-maze/trendsetterLicense code: IP29FC0QKB6DV2UE
Romance novelists Elle Everhart and Ellie Palmer join co-hosts V.V. Ganeshananthan and Whitney Terrell to talk about the genre's increasing popularity. Everhart, the London-based author of the new book Hot Summer, featuring a protagonist who joins the cast of a reality show only to realize she's interested in a fellow contestant, discusses coming to romance writing as a fourth grader fascinated by kissing, and wonders why as sales boom, the U.S.—but not the U.K.—is seeing more romance-specific bookstores. Palmer, the author of the new book Four Weekends and a Funeral, whose main character is a carrier of the BRCA1 mutation, recalls falling in love with the genre as she prepared for her own preventative double mastectomy. She reflects on how the genre's structure promises positive endings for those who need them at challenging moments, and how the language of romance gave her a way to think about her own body and sexuality. Everhart reads from Hot Summer and Palmer reads from Four Weekends and a Funeral. To hear the full episode, subscribe through iTunes, Google Play, Stitcher, Spotify, or your favorite podcast app (include the forward slashes when searching). You can also listen by streaming from the player below. Check out video versions of our interviews on the Fiction/Non/Fiction Instagram account, the Fiction/Non/Fiction YouTube Channel, and our show website: https://www.fnfpodcast.net/ This episode of the podcast was produced by Anne Kniggendorf. Elle Everhart Hot Summer Wanderlust Ellie Palmer Four Weekends and a Funeral Others "9 New Books We Recommend This Week" | May 4, 2023 | The New York Times "Hot and Bothered: Four New Romance Novels" by Olivia Waite | August 7, 2020 | The New York Times Nora Ephron Nancy Meyers Mhairi McFarlane Beth O'Leary Talia Hibbert Bolu Babalola “A Romance Bookstore Boom” by Olivia Waite | The New York Times “Emily Henry is Proud to be Called a Romance Writer” by | The New York Times Olivia Waite Jodi Picoult Love Island Tropes & Trifles Learn more about your ad choices. Visit megaphone.fm/adchoices
Kristina Coccoluto is an advocate, public speaker, and avid runner. At age 25, genetic testing showed that she had a mutation in the BRCA1 gene that put her at much higher risk than the average woman for breast and ovarian cancer. It wasn't a matter of "if, but when" as her oncologist said. Kristina realized she was empowered to make a difference in her health, but it would require a big sacrifice. She decided to have a double mastectomy to reduce her risk of breast cancer. Post op, running became a metaphor for her comeback story and journey ahead. It gave Kristina the feeling of getting back to herself. Now with half of the Abbott World Marathon under her belt, it's safe to say she's found her stride while inspiring others through her powerful story and showing them that they can do hard things too."I'm no longer runnning from cancer, I'm outpacing it!" ~ KCFollow Kristina: @kristinacoccolutoRead more about Kristina's story HEREFollow Madison: @madisoncicconeMadison's Website: https://madisonciccone.com/Buy the Gratitude Journal on Amazon PrimeRide with her at SoulCycle in Boston
What would you do if genetic testing revealed a high risk for cancer? In this episode, Dorothy speaks with Michelle Sandlin, author of Cancer Don't Care, and her daughter Kendall. Kendall shares her experience with preventive surgeries after testing positive for the BRCA1 gene mutation. She discusses her decision-making process, challenges, and the lack of information for young women facing similar choices. For women like Kendall and Michelle, it's all about health advocacy and seeking support. Her mother, Michelle, offers her perspective on the journey. The conversation highlights genetic testing, preventive measures, and communication from medical professionals. Subscribe to Let's Talk About Your Breasts wherever you get your podcasts and consider making a donation at therose.org. Key Questions Answered 1.) In what ways can genetic testing provide valuable information about one's risk for developing certain types of cancer? 2.) How can undergoing preventive surgeries, such as a double mastectomy and full hysterectomy, significantly reduce the risk of developing cancer for individuals with a high genetic predisposition? 3.) How can advocacy and support from others who have gone through similar experiences be invaluable for individuals facing these decisions? 4.) Why are self-care and prioritizing one's health essential? Chapters 00:00 Introduction: Kendall's BRCA1 Gene Mutation 06:15 The Difficult Decision: Double Mastectomy 09:55 Navigating Red Tape and Insurance Issues 12:36 The Importance of Asking the Right Questions 18:44 The Need for More Information and Support 23:23 Conclusion: Advocacy and Self-CareSee omnystudio.com/listener for privacy information.
I wanted to share my story - and give a health update: I have breast cancer. I have the BRCA1 positive gene which means my chances of getting breast cancer was already very high. I have been doing preventative screenings for the past 5+ years and sadly this last MRI showed a mass. I hadn't felt anything on my own yet and only found out about this tumor because of my 6 month screening.I am lucky I caught it early- but that bad news is it's invasive and fast moving and the only thing I can do to kill it is chemo.Listen to this week's episode to hear more details as I share my story. Contact More Or Less With TessInstagram: @moreorlesswithtesspodcastEmail us at moreorlesswithtess@gmail.comLink to Website: https://moreorlesswithtess.buzzsprout.comThanks for listening!
Episode 2480 - On this Friday's show Vinnie Tortorich welcomes Dr. Zöe Harcombe and they discuss calling out researchers for skewing the numbers for breast cancer screening, HPV, and more. https://vinnietortorich.com/2024/04/skewing-the-numbers-dr-zoe-harcombe-episode-2480 PLEASE SUPPORT OUR SPONSORS YOU CAN WATCH THIS EPISODE ON YOUTUBE - Skewing the Numbers Dr. Harcome addresses health and wellness claims and debunks them when necessary. (3:00) One of the more recent articles was centered around red meat causing T2 diabetes. Another article claims intermittent fasting will cause cardiac death. (4:15) She shares a recent experience at a conference and addresses intermittent fasting. (7:00) She points out the details and explains how information was gathered. The headline is based on 31 people; however, the starting numbers of the study were significantly higher. This means that the entire study only used 1.5% of the information gathered. The report is then based on skewing the numbers. The next headline has to do with breast cancer screening. (27:00) There are very specific instances where highly extensive treatment may not have been necessary for some women. (33:00) The problem with this is that chemotherapy is toxic as well. Things like having the BRCA1 gene are not included in this, and shouldn't be; that is a different circumstance. HPV discussion: What is the current information about HPV? (39:00) Back to the breast cancer screening, Dr. Harcombe shares more information. (45:00) She shares how she personally approaches screening. They chat a bit about Princess Kate of the British Royal family and her recent hospital stay. (55:00) Belly Reduction Dr. Harcombe touches on a report about kimchi. (1:00:00 ) The claim says it can reduce "beer belly," but the standards of obesity are much different in Korea than they are in the West. A "beer belly" in Korea is a 32" waist. You also need to see who funds the studies—as usual, follow the money. Also, places like Harvard push an agenda; funding doesn't happen unless your study follows the agenda. (1:05:00) The system creates the narrative. (1:06:00) Dr. Harcombe shares what it takes to get research published; it's difficult, especially since her studies tend to go against the narrative. You can find her website at Look for Vinnie's NSNG® VIP Community and sign up for the waitlist! Go to to sign up! [the_ad id="20253"] PURCHASE BEYOND IMPOSSIBLE (2022) The documentary launched on January 11! Order it TODAY! This is Vinnie's third documentary in just over three years. Get it now on Apple TV (iTunes) and/or Amazon Video! Link to the film on Apple TV (iTunes): Then, Share this link with friends, too! It's also now available on Amazon (the USA only for now)! Visit my new Documentaries HQ to find my films everywhere: REVIEWS: Please submit your REVIEW after you watch my films. Your positive REVIEW does matter! FAT: A DOCUMENTARY 2 (2021) Visit my new Documentaries HQ to find my films everywhere: Then, please share my fact-based, health-focused documentary series with your friends and family. The more views, the better it ranks, so please watch it again with a new friend! REVIEWS: Please submit your REVIEW after you watch my films. Your positive REVIEW does matter! FAT: A DOCUMENTARY (2019) Visit my new Documentaries HQ to find my films everywhere: Then, please share my fact-based, health-focused documentary series with your friends and family. The more views, the better it ranks, so please watch it again with a new friend! REVIEWS: Please submit your REVIEW after you watch my films. Your positive REVIEW does matter!