Podcasts about brca

Featuring perspectives from Dr Kathleen N Moore and Dr Matthew A Powell, including the following topics: Introduction: A Pan-tumor Perspective on Microsatellite Instability (MSI)-High Disease — Immunotherapy for Localized Disease (0:00) Case: A woman in her early 60s with mismatch repair-deficient metastatic endometrial cancer (EC) and multiple positive metastases — Shachar Peles, MD (8:18) Case: A woman in her mid 60s with recurrent EC and a BRCA mutation — Stephen "Fred" Divers, MD (12:17) Data Review: Immune Checkpoint Inhibitors (15:26) Case: A woman in her early 30s with Stage I mismatch repair-proficient EC and multiple pulmonary metastases after receiving fertility treatments — Kellie E Schneider, MD (28:22) Case: A woman in her early 80s with EC and high blood pressure — Syed F Zafar, MD (34:24) Case: A postmenopausal woman in her late 60s with recurrent HER2-positive EC and unresectable carcinomatosis — Lyndsay J Willmott, MD (38:18) Case: A woman in her late 60s with EC and pericarditis — Karim ElSahwi, MD (44:28) Data Review: Novel Antibody-Drug Conjugates (51:38) Case: A woman in her early 70s with metastatic MSI-stable, HER2-negative EC with PI3 kinase and FGFR mutations wants to avoid treatment with chemotherapy — Victoria Giffi, MD (55:01) CME information and select publications

Welcome to Grid Talk, this week we're talking to Tony Evdoka the new BRCA 10th Off Road Chairman, we talk about his new role, the new committee members for 2026 and the 10th AGM among some other great topics.All that and more on this weeks show!#CMLdistribution#SchumacherRacing#Willspeed#GTRC

Briana Felsen's path to motherhood was anything but straightforward. When she learned she was a BRCA carrier, everything changed—her sense of time, her plans for the future, and her relationship with her own body. Facing a 72% lifetime risk of breast cancer, she found herself racing against the clock to build her family before needing preventative surgery. What followed was a fertility journey deeply intertwined with Jewish time—the holidays marking both medical milestones and heartbreaks. From an ectopic pregnancy on the High Holidays to finally learning she was pregnant on Chanukah, her story is one of resilience, faith, and finding light after darkness. We talk about: - How a BRCA diagnosis reshapes family planning and fertility decisions - Navigating IVF, PCOS, and genetic testing with faith and fear in equal measure - What it feels like when Jewish holidays become painful reminders instead of celebrations - The toll of miscarriage and ectopic pregnancy, even when a good dose of Zoloft helped her hold on For anyone navigating a genetic diagnosis or struggling with fertility challenges, this raw and heartfelt conversation is a reminder that you are never alone. More about Briana Felsen: Briana Felsen is a development professional who works in the Israel space. First in South Florida and now back home right outside of Washington, DC. She graduated from Indiana University with her undergraduate degree in Near Eastern Languages and Cultures and George Washington University for her graduate program in Israel Education. Briana is passionate about Jewish community building, reading good books, Hoosier basketball, and the perfect wine and cheese pairing. Briana lives in Potomac Maryland with her husband Jerry and their dog Skipper and the newest member of their family, their IVF baby, Sonny. Connect with Briana Felsen: - Follow her on Instagram Connect with us: -Check out our Website -Follow us on Instagram and send us a message -Watch our TikToks -Follow us on Facebook -Watch us on YouTube -Connect with us on LinkedIn

Send us a textBreast cancer survivors are sometimes told to endure the fallout of estrogen deprivation. Speaking of Women's Health Podcast Host sits down with Dr. Corinne Menn, a long‑term breast cancer survivor, to unpack what real, evidence‑based menopause care looks like for breast cancer survivors, high‑risk women, and BRCA previvors—without fear and without shame.For more information on Dr. Corinne Menn, visit drmenn.com.Support the show

Dr Hajra is a GP and aesthetic doctor who was diagnosed with breast cancer in 2025, aged 37. In this episode of the Breast Cancer Now podcast, Hajra talks to Laura about the shock of her recent diagnosis, the effects of the chemotherapy treatment she's undergoing, and the treatment plan coming up, including a double mastectomy. Hajra also shares the differences in experiencing cancer as a doctor, compared with as a patient, and the surprising ways it's affected her. She tells Laura about her BRCA gene mutation, and how that news affected her outlook on her breast cancer diagnosis. You can find Dr Hajra on Instagram @drhajrasdiary If you'd like to find out more about Breast Cancer Now's support services, visit the Breast Cancer Now website or phone our free helpline on 0808 800 6000 (UK only). You can subscribe to this podcast on Spotify, Apple Podcasts, or wherever you get your podcasts. Every episode is available to watch or listen to on the Breast Cancer Now website. You can also watch it on YouTube. Key Topics: 1:56 Hajra's work as a GP and aesthetic doctor 6:23 Practising breast awareness as a doctor 9:02 Biopsies and scans, as a doctor 16:18 Receiving biopsy results with friends and family 18:09 Hajra is diagnosed with triple negative breast cancer 19:19 The treatment plan for Hajra's breast cancer 20:26 Being treated as a patient rather than as a doctor 21:40 Hajra is the first in her family with breast cancer 22:14 The physical effects of chemotherapy 23:42 Genetic testing for breast cancer gene mutations 29:03 Coping with the impact of a gene mutation diagnosis 33:22 Breast cancer treatment and fertility 39:22 The effect of chemotherapy on physical apperarance 44:57 Hajra's plan for aesthetic treatments after chemotherapy 47:28 Thoughts on the upcoming double mastectomy 50:15 Mental health and breast cancer treatment 53:17 Working during treatment for breast cancer 54:53 The importance of sharing your story 56:43 What it means to Hajra to "live well"

Prof. Samuel Antwi Oppong joins us again as we talk about explore why ovarian cancer is called the silent killer, often diagnosed late, risk factors, genetic predisposition (BRCA genes), symptoms to watch for, and treatment approaches.

Prof. Samuel Antwi Oppong joins us again as we talk about explore why ovarian cancer is called the silent killer, often diagnosed late, risk factors, genetic predisposition (BRCA genes), symptoms to watch for, and treatment approaches.

Today we are speaking with a family who only knows life with breast cancer. With a strong family history of both breast cancer and BRCA gene mutations on the maternal side, everyone has always wondered “when”, not “if” breast cancer would affect them too. When Kathryn was diagnosed in her early 30's like her mother was, it unveiled the difficulties of being diagnosed as a young woman. It also spurred a series of decisions by her two sisters, one of which is her twin. This is a story of support, empowerment, struggle, guilt and pain, but most of all, family. Today we welcome sisters Kathryn, Christine and Cara and their mom Vicki to the show to talk about experiences.

De'Ann Richter is a renowned coach at ⁠Breast Cancer Conqueror⁠ who works closely with Veronique Desaulniers. Their mission is to provide women and men with a variety of options when it comes to cancer, specifically breast cancer. New episodes of Welcome to Wellness released every Friday!Not listening on Spotify? Show notes at: https://www.ashleydeeley.com/w2w/breastcancerconquerorEpisode brought to you by: ⁠⁠⁠⁠Alive Waters⁠⁠⁠⁠ (Code: ASHLEY)Episode brought to you by: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ARAZA Beauty⁠⁠⁠⁠⁠Episode brought to you by:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ VieLight⁠⁠⁠ (⁠⁠Code: DEELEYA25VL)3:23: Has been a coach for over 10 years4:23: ⁠The Seven Essentials⁠8:15:⁠ Dr Veronique Desaulniers⁠, two-time breast cancer survivor10:29: How to heal 12:16: ⁠Broccoli Sprouts⁠ & ⁠Sulforaphane supplement⁠ 12:42: ⁠Vitamin D⁠ 12:54: ⁠Curcumin⁠ 13:05: ⁠Modified Citrus Pectin⁠ / or, Econugenics brand of ⁠Modified Citrus Pectin⁠ powder13:35: Modified citrus pectin can up regulate the P53 gene which helps kill tumors14:40: Exposing your breasts to sunlight15:19: Stop wearing underwire bras16:33: Reduce your EMF exposure (Visit ⁠Tech Wellness⁠ to learn more!) 17:40: ⁠Gia for EMF protection⁠ (or ⁠BluShield⁠ is one of my favorites!)18:48: ⁠My free Clean Beauty Guide⁠21:35: ⁠Thermography⁠22:37: Inflammatory markers (ask for these on your blood test): 23:58: BRCA gene25:19: ⁠Difference between mammography and thermography⁠28:04: Ultrasounds29:00: Diagnostic sample31:48: ⁠Coffee enemas⁠ (MUST use organic coffee) (⁠blog post⁠)34:03: You don't get glutathione from food36:46: ⁠Wine ⁠during cancer (low alcohol is OK! Dry Farm wine ONLY makes low alcohol wine!)38:26: ⁠Anatomy of an Illness⁠38:44: Stimulating the vagal nerve42:31: How to mitigate damage from chemo42:41: Dr. Valter Longo: ⁠Fasting Cancer⁠43:39: ⁠Mistletoe & breast cancer⁠44:19: ⁠Sex, Lies, & Menopause⁠45:27:*⁠ Morning Glory⁠ tincture45:44: *⁠Dandelion⁠ tincture46:12: Bioidentical Hormone Replacement Therapy (⁠hormone solutions⁠)50:23: * ⁠DIM⁠50:52: Soy & breast cancer (⁠YES to Haelen, fermented soy beverage⁠)56:05: Top book recommendations:⁠Heal Breast Cancer Naturally⁠ ⁠The Metabolic Approach to Cancer⁠⁠How to Starve Cancer⁠⁠You Are the Placebo⁠⁠Getting Well Again⁠⁠The Success Principles⁠⁠Limitless by Jim Kwik⁠Where to find De'Ann:⁠Website⁠⁠Instagram⁠coaching@breastcancerconqueror.comWhere to find Ashley Deeley:⁠⁠⁠⁠⁠⁠Website⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠YouTube⁠⁠⁠⁠hello@ashleydeeley.com

In this episode of the Cancer Assist Podcast, Dr Bill Evans sits down with Dr Andrea Eisen to talk about how genetics influence breast and ovarian cancer risk. They explore what BRCA1 and BRCA2 genes actually do, how mutations are passed through families, and why understanding your genetic background can be life-changing. Dr Eisen shares information from her work in hereditary cancer genetics, explaining who should consider testing, what results mean, and the options available for prevention and treatment. Whether you have a family history of breast cancer or simply want to learn more about advances in genetic medicine, this conversation offers clear information, hope, and practical steps to help you take charge of your health.

Le prime pagine dei principali quotidiani nazionali commentate in rassegna stampa da Davide Giacalone. La liberazione degli ostaggi israeliani e l'intervento di Trump, le elezioni regionali in Toscana e il calo delle affluenze alle urne, il Nobel per l'economia. Il presidente della regione Veneto, Luca Zaia è intervenuto in diretta per darci notizie, sull'esplosione, avvenuta a Castel d'Azzano nel veronese, durante lo sgombero da un casolare, che ha provocato la morte di tre Carabinieri. Il summit a Sharm el Sheikh: quali scenari si aprono? Ne abbiamo parlato con Francesco Galietti, firma di Panorama, fondatore di Policy Sonar, esperto di scenari strategici. Don Antonio Mazzi, fondatore della comunità Exodus, regala ogni giorno un pensiero, un suggerimento, una frase agli ascoltatori di RTL 102.5. L'attualità economica, commentata dal prof. Carlo Cottarelli, economista. Ottobre è il mese dedicato alla prevenzione del tumore al seno. Oggi sono in collegamento con noi il Prof. Massimo Di Maio, Presidente Eletto AIOM (Associazione Italiana di Oncologia Medica). Ornella Campanella Presidente Abrcadabra (Associazione nazionale nata per sostenere tutti i portatori della mutazione BRCA 1 e BRCA2). La tregua in Medio Oriente. Ci ha raggiunto Nello Scavo, inviato speciale di Avvenire. All'interno di Non Stop News, con Giusi Legrenzi, Enrico Galletti e Massimo Lo Nigro.

JCO PO author Dr. Asaf Maoz at Dana-Farber Cancer Institute shares insights into article, “Causes of Death Among Individuals with Lynch Syndrome in the Immunotherapy Era.” Host Dr. Rafeh Naqash and Dr. Maoz discuss the causes of death in individuals with LS and the evolving role of immunotherapy. TRANSCRIPT Dr. Rafeh Naqash: Hello, and welcome to JCO Precision Oncology Conversations, where we bring you engaging conversations with authors of clinically relevant and highly significant JCOPO articles. I'm your host, Dr. Rafeh Naqash, podcast editor for JCO Precision Oncology and Associate Professor Medicine, at the OU Health Stephenson Cancer Center. Today, I'm super thrilled to be joined by Dr. Asaf Maoz, Medical Oncologist at Dana-Farber Cancer Institute, Brigham and Women's Hospital, and faculty at the Harvard Medical School, and also lead author on the JCO Precision Oncology article entitled "Causes of Death Among Individuals with Lynch Syndrome in the Immunotherapy Era." This publication will be a concurrent publication with an oral presentation at the annual CGA meeting. At the time of this recording, our guest's disclosures will be linked in the transcript. Asaf, I'm excited to welcome you on this podcast. Thank you for joining us today. Dr. Asaf Maoz: Thank you so much for highlighting our paper. Dr. Rafeh Naqash: Absolutely. And I was just talking to you that we met several years back when you were a trainee, and it looks like you've worked a lot in this field now, and it's very exciting to see that you consider JCOPO as a relevant home for some of your work. And the topic that you have published on is of significant interest to trainees from a precision medicine standpoint, to oncologists in general, covers a lot of aspects of immunotherapy. So, I'm really excited to talk to you about all of this. Dr. Asaf Maoz: Me too, me too. And yeah, I think JCOPO has great content in the area of cancer genetics and has done a lot to disseminate the knowledge in that area. Dr. Rafeh Naqash: Wonderful. So, let's get started and start off, given that we have hosts of different kinds of individuals who listen to this podcast, especially when driving from home to work or back, for the sake of making everything simple, can we start by asking you what is Lynch syndrome? How is it diagnosed? What are some of the main things to consider when you're trying to talk an individual where you suspect Lynch syndrome? Dr. Asaf Maoz: Lynch syndrome is an inherited predisposition to cancer, and it is common. So, we used to think that, or there's a general notion in the medical community that it is a rare condition, but we actually know now from multiple studies, including studies that look at the general population and do genetic testing regardless of any clinical phenotype, that Lynch syndrome is found in about 1 in 300 people in the general population. If you think about it in the United States, that means that there are over a million people living with Lynch syndrome in the United States. Unfortunately, most individuals with Lynch syndrome don't know they have Lynch syndrome at the current time, and that's where a lot of the efforts in the community are being made to help detect more individuals who have Lynch syndrome. Lynch syndrome is caused by pathogenic germline variants in mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, or as a result of pathogenic variants in EPCAM that cause silencing of the MSH2 gene. Dr. Rafeh Naqash: Excellent. Thank you for that explanation. Now, one of the other things I also realized, similar to BRCA germline mutations, where you require a second hit for individuals with Lynch syndrome to have mismatch repair deficient cancers, you also require a second hit to have that second hit result in an MSI-high cancer. Could you help us understand the difference of these two concepts where generally Lynch syndrome is thought of to be cancers that are mismatch repair deficient, but that's not necessarily true for all cases as we see in your paper. Can you tease this out for us a little bit more? Dr. Asaf Maoz: Of course, of course. So, the germline defect is in one of the mismatch repair genes, and these genes are responsible for DNA mismatch repair, as their name implies. Now, in a normal cell, we think that one working copy is generally enough to maintain the mismatch repair machinery intact. What happens in tumors, as you alluded to, is that there is a second hit in the same mismatch repair gene that has the pathogenic germline variant, and that causes the mismatch repair machinery not to work anymore. And so what happens is that there is formation of mutations in the cancer cell that are not present in other cells in the body. And we know that there are specific types of mutations that are associated with defects in mismatch repair mechanisms, and those are associated a lot of times with frameshift mutations. And we have termed them ‘microsatellites'. So there are areas in the genome that have repeats, for example, you know, if you have AAAA or GAGA, and those areas are particularly susceptible to mutations when the mismatch repair machinery is not working. And so we can measure that with DNA microsatellite instability testing. But we can also get a sense of whether the mismatch repair machinery is functioning by looking at protein expression on the surface of cancer cells and by doing immunohistochemistry. More recently, we're also able to infer whether the mismatch repair machinery is working by doing next-generation sequencing and looking at many, many microsatellites and whether they have this DNA instability in the microsatellites. Dr. Rafeh Naqash: Excellent explanation. As a segue to what you just mentioned, and this reminds me of some work that one of my good friends, collaborators, Amin Nassar, whom you also know, I believe, had done a year and a half back, was published in Cancer Cell as a brief report, I believe, where the concept was that when you look at these mismatch repair deficient cancers, there is a difference between NGS testing, IHC testing, and maybe to some extent, PCR testing, where you can have discordances. Have you seen that in your clinical experience? What are some of your thoughts there? And if a trainee were to ask, what would be the gold standard to test individuals where you suspect mismatch repair deficient-related Lynch syndrome cancers? How would you test those individuals? Dr. Asaf Maoz: We do sometimes see discordance, you know, from large series, the concordance rate is very high, and in most series it's over 95%. And so from a practical perspective, if we're thinking about the recommendation to screen all colorectal cancer and all endometrial cancer for mismatch repair deficiency, I think either PCR-based testing or immunohistochemistry is acceptable because the concordance rate is very high. There are rare cases where it is not concordant, doing multiple of the tests makes sense at that time. If you think about the difference between the tests, the immunohistochemistry looks at protein expression, which is a surrogate for whether there is mismatch repair deficiency or not, right? Because ultimately, the mismatch repair deficiency is manifested in the mutations. So if the PCR does not show microsatellite instability and now NGS does not show microsatellite instability, the IHC may be a false positive. At the end of the day, the functional analysis of whether there are actually unstable microsatellites either by PCR or by NGS is what I would consider more informative. But IHC again is an excellent test and concordant with those results in over 95% of cases. Now there is also an issue of sampling. It's possible that there's heterogeneity within the tumor. We published a case in JCOPO about heterogeneity of the mismatch repair status, and that was both by immunohistochemistry, but also by PCR. So there are some caveats and interpreting these tests does require some expertise, and I'm always happy to chat with trainees or whoever has an interesting or challenging case. Dr. Rafeh Naqash: Thanks again for that very easy to understand explanation. Now going to management strategies, could you elaborate a little bit upon the neo-adjuvant data currently, or the metastatic data which I think more people are familiar with for immunotherapy in individuals with MSI-high cancers? Dr. Asaf Maoz: Yeah, that's an excellent question and obviously a very broad topic. Individuals with Lynch syndrome typically develop tumors that are mismatch repair deficient or microsatellite unstable. And we have seen over the last 15 years or so that these tumors, because they have a lot of mutations and because these mutations are very immunogenic, we have seen that they respond very well to immunotherapy. And this has been shown across disease sites and has been shown across disease settings. And for that reason, immunotherapy was approved for MSI-high or mismatch repair deficient cancer regardless of the anatomic site. It was the first tissue-agnostic approval by the FDA in 2017. And so there are exciting studies both in the metastatic setting where we see individuals who respond to immunotherapy for many years, and one could wonder whether their cancer is going to come back or not. And also in the earlier setting, for example, the Cercek et al. study in the New England Journal from Sloan Kettering, where they showed that neoadjuvant immunotherapy can cause durable responses for rectal cancer that is mismatch repair deficient. And in that series, the patients did not require surgery or radiation, which is standard of care for rectal cancer otherwise. And there's also exciting data in the adjuvant space, as was presented in ASCO by Dr. Sinicrope, the ATOMIC study, and many more efforts to bring immunotherapy into the treatment landscape for individuals with MSI-high cancer, including individuals with Lynch syndrome. Dr. Rafeh Naqash: A lot of activity, especially in the neo-adjuvant and adjuvant space over the last two years or so. Now going to the actual reason why we are here is your study. Could you tell us why you looked at this idea of patients who had Lynch syndrome and died, and the reasons for their death? What was the thought that triggered this project? Dr. Asaf Maoz: As we were talking about, we now know that immunotherapy really has changed the treatment landscape for individuals with Lynch syndrome, and that most cancers that individuals with Lynch syndrome do have this mismatch repair deficiency. But we also know that individuals with Lynch syndrome can develop tumors that do not have mismatch repair deficiency, and we call them mismatch repair proficient or microsatellite stable. And there was a series from Memorial Sloan Kettering showing that in colorectal cancer, about 10% of the tumors that individuals with Lynch syndrome developed did not have mismatch repair deficiency. In addition to that, we anecdotally saw that some of our patients with Lynch syndrome died of causes that were not mismatch repair deficient tumors. We wanted to see how that has changed since immunotherapy was approved in a tissue-agnostic manner, meaning that we could look at this regardless of where the cancer started, because we would anticipate that if the tumor was mismatch repair deficient, the patient would be able to access immunotherapy as standard of care. Dr. Rafeh Naqash: Thank you. And then you looked at different aspects of correlations with regards to individuals that had an MSI-high cancer with Lynch syndrome or an MSS cancer with Lynch syndrome. Could you elaborate on some of the important findings that you identified as well as some of the unusual findings that perhaps we did not know about, even though the sample size is limited, but what were some of the unique things that you did identify through this project? Dr. Asaf Maoz: The first question was what cause is leading to death in individuals with Lynch syndrome? And we had 54 patients that we identified that had died since the approval of immunotherapy in 2017, 44 of which died of cancer-related causes. And when we looked at cancer-related causes of death, we wanted to know how many of those were due to mismatch repair deficient tumors versus mismatch repair proficient tumors or MS-stable tumors. And we found, somewhat surprisingly, that 43% of patients in our cohort actually died of tumors that were microsatellite stable or mismatch repair proficient, meaning of tumors that are not typically associated with Lynch syndrome. This is not entirely surprising as a cause of death because we know that immunotherapy does not typically work for tumors that are microsatellite stable. And so in the metastatic setting, there are much less cases of durable remissions with treatment. But it was helpful to have that figure as an important benchmark. There are previous studies about causes of death in Lynch syndrome, and particularly from the Prospective Lynch Syndrome Database in Europe. Those have provided really important information about cause of death by cancer site, but they typically don't have mismatch repair status and are more difficult to interpret in that regard. They also don't include a large number of individuals who have PMS2 Lynch syndrome, which is the most common, but least penetrant form of Lynch syndrome. Dr. Rafeh Naqash: As far as the subtype of pathogenic germline variants is concerned, did you notice anything unusual? And I've always had this question, and you may know more about this data, is: In the bigger context of immunotherapy, does the type of the pathogenic germline variant for Lynch syndrome associated MSI-high cancers, does that impact or have an association with the kind of outcomes, how soon a cancer progresses or how many exceptional responders perhaps with MSI-high cancers actually have a certain specific pathogenic germline variant? Dr. Asaf Maoz: That's an excellent question, and certainly we need more data in that space. We know that the type of germline mutation, or the gene in which there is a germline pathogenic variant, determines to a large degree the cancer risk, right? So we know that individuals who have germline pathogenic variants in MLH1 or MSH2 have a much higher colorectal cancer risk than, for example, PMS2. We know that for PMS2, the risks are more limited to colorectal and endometrial, and may be lower risk of other cancers. We also know that, you know, the spectrum of disease may change based on the pathogenic germline variants. For example, individuals who have MSH2 associated Lynch syndrome have more risk of additional cancers in other organs like the urinary tract and other less common Lynch-associated tumors. The question about response to therapy is one where we have much less information. There are studies that are trying to assess this, but I don't think the answer is there yet. Some of the non-clinical data looks at how many mutations there are based on the pathogenic variant and what the nature of those mutations are, whether they're more frameshift or others. But I think we still need more clinical data to understand whether the response to immunotherapy differs. It's also complicated by the fact that the immunotherapy landscape is changing, especially in the metastatic setting, now with the approval of combination ipilimumab and nivolumab for first-line treatment of colorectal cancer that is microsatellite unstable. But in our study, we did find that, as you would expect, there is an enrichment in MS-stable cancers among those with PMS2 Lynch syndrome. Again, our denominator is those who died, right? So this is not the best way to look at the question whether this is overall true, that is more addressed by the study that Sloan Kettering published. But we do see, as we would anticipate, that there are more microsatellite stable cancers among those with PMS2 Lynch syndrome that died. Dr. Rafeh Naqash: A lot to uncover there for sure. This study and perhaps some of the other work that you're doing is slowly advancing our understanding of some of these concepts. So I'd like to shift gears to a couple of provocative questions that I generally like to ask. The first is, in your opinion, and you may or may not have data to back this up, which is okay, and that's why we're having a conversation about it. In your opinion, do you think the type or the quality of the neoantigen is different based on the pathogenic germline variant and a Lynch syndrome associated MSI-high cancer? Dr. Asaf Maoz: I think there are some data out there that, you know, I can't cite off the top of my mind, but there are some data out there that suggest that that may be the case. I think the key question is the quality, right? I think that whether these differences that are found on a molecular level also translate to a clinical difference in response is something that is unknown at this moment. Some people hypothesize that if the tumor has less neoantigens, there's less of a response to immunotherapy. But I think we really need to be careful before making those assertions on a clinical level. I do think it's a really important question that needs to be answered, among others because, you know, in the colorectal space, for example, where we have both the option of doing ipilimumab with nivolumab and the option of doing pembrolizumab, we don't really know which patients need the CTLA-4 blockade versus which patients can receive PD-1 blockade alone and avoid the potential excess toxicity of the CTLA-4 blockade. There are a lot of interesting questions there that still need to be answered. And of course, individuals with Lynch syndrome are just a fraction of those individuals who have MSI-high cancer. So there's also the question about whether non-Lynch syndrome associated MSI-high cancer responds differently to immunotherapy than Lynch syndrome associated MSI-high cancer. A lot of very interesting questions in the field for sure. Dr. Rafeh Naqash: Absolutely. My second question is more about trying to understand the role of ctDNA, MRD monitoring in individuals with Lynch syndrome. If somebody has a germline, you know, Lynch syndrome MSI-high cancer, when you do a tumor-informed ctDNA assessment, what do you capture generally there? Because, and this question stems from a discussion I've had with somebody regarding EGFR lung cancer, since I treat individuals with lung cancer, and the concept generally is that even if the tissue showed EGFR, but for MRD monitoring, when you do a barcoded sequence of different tumor specific mutations, it's not actually the EGFR that they track in the blood when they do ctDNA assessment. But from a Lynch syndrome standpoint, if you have a germline, right, which is the first hit, and then you have the somatic in the tumor, which is the second hit, are you aware or have you tried to look into this where what is exactly being followed if one had to follow MRD in a Lynch syndrome MSI-high colorectal cancer? Dr. Asaf Maoz: I think a lot of the MRD assays are proprietary, and so we don't receive information about what the mutations that are being tracked are. In general, the idea is to track mutations that we would not expect to disappear as part of resistant mechanisms. We want these to be truncal mutations. We want these to be mutations in which resistance is not expected to result in reversion mutations. But what specifically is being tracked is something that I don't know because these assays, the tumor-informed ones, are proprietary, and we don't get the results regarding specific mutations. When it's circulating tumor DNA that is not necessarily tumor-informed, we do get those results, but that is less so about the specific selection of mutations. Dr. Rafeh Naqash: Thank you for clarifying that question to some extent, of course, as you said, we don't know a lot, and we don't know what we don't know. That's the most important thing that I've learned in the process of understanding precision medicine and genomics, and it's a very fast-paced evolving field. Last question related to your project, what is the next step? Are you planning any next steps as a bigger multicenter study or validation of some sort? Dr. Asaf Maoz: There are two big questions that this study raises. One, is this true across multiple other sites, right? Because this is a single center study, and we really need additional centers to look at their data and validate whether they are also seeing that a substantial portion of deaths in individuals with Lynch syndrome are attributable to mismatch repair proficient cancer. The other question is whether we can look at specifically MSI-high cancer versus MS-stable cancer and understand what the mortality rate for each of those are. From a clinical perspective, it's important to counsel individuals with Lynch syndrome about general cancer screening outside of mismatch repair deficient tumors and to understand that there is also a risk of mismatch repair proficient tumors and that treatment for those tumors would be different. There's a lot of work to be done in the future. Another major area of need is to see whether tumors that are microsatellite stable can be sensitized to immunotherapy, and that is beyond the Lynch syndrome field, but that is something that certainly would benefit these individuals with Lynch syndrome who develop mismatch repair proficient cancer. Dr. Rafeh Naqash: That's very interesting to hear, and we'll look forward to seeing some of those developments shape in the next few years. Now, I'd like to spend a minute, minute and a half on you specifically as a researcher, clinician, scientist. Could you briefly highlight - because I remember meeting you several years back as a trainee, with your interest in genomics, computational research - could you briefly tell us what led you to hereditary cancer syndromes based on your research and work? What are some of the things that you learned along the way that other early career investigators can perhaps take lessons from? Dr. Asaf Maoz: Big questions there, thanks for asking. I got interested in the field of hereditary cancer syndromes when I came to the United States and started doing lab research in Stephen Gruber's lab at the time at USC. He's now at City of Hope. And my interest was originally looking at immunotherapy and immunology, but I went to the case conferences where we were learning about individuals with hereditary cancer, and those were kind of earlier days where we were still trying to figure out how to test and what the implications for these individuals would be. And through fellowship, I was also very interested in that, and I did my senior fellowship years with Dr. Yurgelun here at Dana-Farber, who is the director of the Lynch Syndrome Center. And I I think it's the combination between being able to treat individuals based on precision medicine and what the germline mutation is, but also the ability to prevent cancer and to develop strategies to intercept cancer early that is really appealing to me in this field. It's also a great field to be in because it's a small field. If you come to the CGA-IGC meeting, you'll be able to interact with everyone. Everyone is super collaborative, super nice, and I really recommend it to trainees. The CGA-IGC annual meeting is really a great opportunity to learn more and experience some of the advancement specifically in the GI hereditary space. Lessons for trainees. I think there are a lot of lessons that I could think about, but I think finding strong and supportive mentors is one of the things that has helped me most. I think that just having close relationship with your mentor, having frequent discussions and honest discussions about what is feasible, what is going to make a difference for your patients and your research and what you want to focus on is really important. And so I think if I had to choose one thing, I would say choose a mentor that you trust, that you feel you have a good relationship with, and that has the availability to support you. Dr. Rafeh Naqash: Thank you so much for those insightful comments, and thank you for sharing with us your journey, your project, and some of your interesting thoughts on this concept of hereditary cancers. Hopefully, we'll see more of this work being published in JCOPO through your lab or work from others. Dr. Asaf Maoz: Thank you so much. I appreciate the opportunity to be here. Dr. Rafeh Naqash: Thank you for listening to JCO Precision Oncology Conversations. 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.

A l'occasion d'Octobre Rose, Squair donne la parole à docteur Samuel Struk pour faire le point sur la reconstruction mammaire en France. Où en sommes-nous ? Est-ce intégralement pris en charge par la sécurité sociale ? A qui s'adresser ? Quelles sont les différentes techniques de reconstruction mammaire ?Le docteur Samuel Struk est spécialisé en Chirurgie Plastique, Reconstructrice et Esthétique à Paris. Ses spécialités sont la chirurgie mammaire et la microchirurgie.En tant que chirurgien plasticien, il pratique principalement la chirurgie du sein, qu'elle soit esthétique ou réparatrice :Reconstruction mammaire après cancer : le Dr Struk est spécialisé en reconstruction mammaire autologue et en microchirurgie (reconstruction mammaire par lambeau de DIEP). Il pratique également la chirurgie prophylactique du cancer du sein (mastectomie prophylactique pour les patientes porteuses de mutations à risque comme BRCA ou PALB2).Chirurgie plastique et esthétique du sein : augmentation mammaire, réduction mammaire, lifting mammaire, correction des asymétries mammaires et des seins tubéreux, chirurgie de la gynécomastie chez l'homme.Le docteur Struk est ancien Assistant Spécialiste de l'Institut Gustave Roussy (premier Centre de Lutte contre le Cancer en Europe, centre précurseur de la microchirurgie en France), ancien Praticien Hospitalier dans le Groupement Hospitalier de Territoire Grand Paris Nord-Est et actuellement Praticien Attaché à l'Institut Curie.En parallèle, il dirige le Centre de Chirurgie Dermatologique Paris Monceau.Site internet : https://docteurstruk.fr/Compte instagram consacré à la reconstruction mammaire : https://bit.ly/4h2w0Qj***Avec neuf bureaux (Paris, Marseille, Lyon, Nantes, Bordeaux, Lille, Montpellier, Aix-en-Provence, Sophia Antipolis) et 110 avocats intervenant dans tous les domaines du droit des affaires, Squair fait partie des 50 plus grands cabinets d'avocats en France. Nos avocats apportent aux clients du cabinet un conseil à haute valeur ajoutée et un accompagnement sur mesure pour la réussite de leurs projets et la défense de leurs intérêts.Un podcast produit par Squair Hébergé par Acast. Visitez acast.com/privacy pour plus d'informations.

Send me a text! I'd LOVE to hear your feedback on this episode!Dr. Bruce Dorr is certified by the American Board of Obstetrics and Gynecology in OB/Gyn and Female Pelvic Medicine and Reconstructive Surgery.  He is a member of the American Urogynecology Society and the American Association of Gynecological Laparoscopy.  He became certified as a Biote medical practitioner in 2015 and provides hormone optimization with pellet therapy for both men and women. Dr. Bruce Dorr is the Senior Medical Advisor for Biote.We dig into menopause timing, BRCA risk, HRT choices, and why estrogen isn't the simple villain it's made out to be. Dr. Bruce Dorr helps us distinguish between real cancer risk and fear, and map practical steps that protect both lifespan and day-to-day well-being.• redefining perimenopause symptoms and timelines• how progesterone loss disrupts sleep, mood, and cycles• heavy bleeding, iron deficiency, and thyroid slowdown links• toxins, stress, and insulin resistance as hormone disruptors• BRCA risk, modern gene panels, and smarter screening• estrogen metabolism pathways and detox support• ovarian cancer risk and timing of oophorectomy• prophylactic mastectomy tradeoffs and monitoring• bioidentical vs synthetic: receptors, delivery, and risk• oral vs transdermal estrogen safety differences• pellets pros and cons: compliance vs flexibility• HRT after cancer: options, limits, and quality of life• building a personalized plan with labs and follow-upBe sure to follow my show, rate it, review it, and share itSend me an email, sandy at sandyknutrition.caFollow me on all my social media channels. It's Sandy Knutrition everywhereShare this episode with another beauty who would benefit from hearing the wisdom that Dr. Bruce Doer shares with usSupport the showPlease rate & review my podcast with a few kind words on Apple or Spotify. Subscribe wherever you listen, share this episode with a friend, and follow me below. This truly gives back & helps me keep bringing amazing guests & topics every week.Instagram: https://www.instagram.com/sandyknutrition/Facebook Page: https://www.facebook.com/sandyknutritionTikTok: https://www.tiktok.com/@sandyknutritionYouTube: https://www.youtube.com/channel/UCIh48ov-SgbSUXsVeLL2qAgRumble: https://rumble.com/c/c-5461001Linkedin: https://www.linkedin.com/in/sandyknutrition/Substack: https://sandykruse.substack.com/Podcast Website: https://sandykruse.ca

A 28 ans, Carolane apprend qu'un cancer la rend malade. Entre choc de la nouvelle, bouleversements corporels et grandes décisions pour le futur, elle traverse ces épreuves avec humour et autodérision.

What if having the same gene as your sister doesn't mean you'll have the same outcome? What if trauma and nervous system dysregulation could be the difference between expressing a genetic disease—or not? In this mini episode, Dr. Aimie Apigian answers a question from Rachel in Texas, who discovered she carries the BRCA gene mutation. Despite making the same lifestyle changes as her sister—who also has the mutation—Rachel developed breast cancer while her sister remained healthy. Why? Dr. Aimie reveals the biological mechanism that connects nervous system dysregulation to genetic expression: oxidative stress. This episode offers a scientifically grounded yet hopeful perspective on why two people with identical genetics can have vastly different health outcomes—and what you can do about it. In this episode you'll hear more about: Why BRCA mutation carriers have a 45-72% lifetime breast cancer risk (versus 12-13% in the general population)—but not everyone with the gene develops cancer The biological link between nervous system dysregulation and oxidative damage to DNA How BRCA genes interact with NRF2 antioxidant pathways, creating increased vulnerability to oxidative stress Why both sympathetic activation (stress/anxiety) and dorsal vagal shutdown (depression/numbness) decrease your body's ability to clear oxidative stress The "calm alive" state: when your body naturally engages its healing and antioxidant repair mechanisms Dana's story from The Biology of Trauma—a physician with childhood trauma who found a breast lump and learned to repair nervous system dysregulation Practical tools: why vitamin C and antioxidant-rich foods (broccoli, blueberries) matter for genetic conditions How somatic self-practices can quickly shift your nervous system state and support cellular repair Why having a genetic condition doesn't mean you're powerless—epigenetics shows us DNA expression can change Genetics load the gun, but environment and nervous system state pull the trigger. This episode is a powerful reminder that even when you carry genetic risk, your nervous system regulation, oxidative stress levels, and daily practices can dramatically influence whether those genes are expressed. Your biology is not a life sentence.

In this episode of SHE MD, hosts Mary Alice Haney and Dr. Thaïs Aliabadi welcome Dr. Gina Campbell from Myriad Genetics. They explore the importance of genetic testing in women's health and its potential to revolutionize cancer prevention and early detection. The discussion also provides insights into the MyRisk® Hereditary Cancer Test, the BRCA genes, and insurance coverage. Sponsor: Myriad Genetics: To learn more, visit getmyrisk.comWhat you'll learn in this episode:Genetic testing for cancer isn't just about BRCA. Myriad checks 48 cancer-causing genes, with 11 linked to breast cancer risk.Your risk isn't just in your genes. Family history, lifestyle, and even tiny DNA markers all play a role. So using tests like the MyRisk® test and Tyrer-Cuzick score or IBIS model can provide more information.Knowledge is power. Knowing your risk can lead to early screening and prevention strategies.Alcohol is a major, often overlooked cancer risk factor. Even one drink a day can significantly increase breast cancer risk.Timestamps:00:00 Introduction05:23 Genetic testing criteria and insurance coverage11:40 Importance of genetic testing for breast cancer risk16:29 Breast cancer screening recommendations and guidelines20:22 Data privacy concerns and benefits of testing24:48 Future of genetic testing and personalized medicine28:57 Advice for maximizing doctor visits and insurance31:33 How to get the MyRisk® genetic testDr. Gina Campbell's Key Takeaways:

Dr. Monty Pal and Dr. Matteo Lambertini discuss a compelling global study on the clinical behavior of breast cancer in young BRCA1 and BRCA2 carriers, the association of pre-diagnostic awareness of BRCA status with prognosis, and the importance of identifying healthy people who are at risk of carrying the BRCA1/2 pathogenic variants. TRANSCRIPT Dr. Monty Pal: Well, hello everyone, and welcome to the ASCO Daily News Podcast. I'm your host, Dr. Monty Pal. I'm a medical oncologist, professor, and vice chair of medical oncology at the City of Hope Comprehensive Cancer Center in Los Angeles. Now, when we think about genetic testing, whether for patients diagnosed with breast cancer or for other family members of them, it seems to be widely underutilized. Today, we're going to be discussing a recently published study in the Journal of Clinical Oncology that reported on the clinical behavior of breast cancer and specifically young BRCA1 and BRCA2 carriers, and the association of pre-diagnostic awareness of BRCA status with prognosis. I thought this was just a fascinating piece, and I honestly couldn't wait to have this conversation. It's a really compelling paper that highlights the importance of identifying healthy people who are at risk of carrying the BRCA1/2 pathogenic variants, and really the need for genetic counseling and testing to inform people about early detection that could lead to a better prognosis. I'm really delighted to welcome the study's lead author, Dr. Matteo Lambertini. He really needs no introduction. He's very well known in the breast cancer world for his amazing contributions to fertility in the context of breast cancer, to pregnancy in the context of breast cancer, and genetic testing. He's an associate professor at the University of Genova, and a breast cancer medical oncologist at the San Martino Polyclinic Hospital in Genova, Italy.  Dr. Lambertini, thank you so much for joining us today. Dr. Matteo Lambertini: Thank you very much, Dr. Pal. It's a great pleasure. Dr. Monty Pal: Oh, thanks. And just FYI, if you're listening in and you want to hear our disclosures, they're all listed at the transcript of this podcast.  So, I poured through this paper [Clinical Behavior of Breast Cancer in Young BRCA Carriers and Prediagnostic Awareness of Germline BRCA Status] yesterday, Dr. Lambertini, and first of all, congratulations on this study. This was a huge international multicenter effort, 4,752 patients. How did you pool all these patients with young breast cancer? Dr. Matteo Lambertini: Thanks a lot for the question. Yes, this was an effort made by several centers all over the world. The main idea behind the creation of this network that we have named as BRCA BCY Collaboration, was to get as many data as possible in a sort of niche patient population in the breast cancer field, meaning women diagnosed with breast cancer at the age of 40 years or younger, and all of them being BRCA carriers. We know that around, in the Western world, around 5% of breast cancer cases are being diagnosed under the age of 40 years, and among them around 10-15% are BRCA carriers. So, I would say it's a relatively rare patient population where we did not have a lot of evidence to support our choices in terms of counseling on treatment, prevention, and oncofertility as well. That was the idea behind the creation of this network that includes many centers. Dr. Monty Pal: Yeah. You know, what's so interesting about this is that you sort of draw this line between patients who have BRCA testing at the time of diagnosis and then BRCA testing earlier in their course and then leading to a diagnosis perhaps. And I think that's where really sort of the dichotomy in outcome sits. Can you maybe elaborate on this and tell us about timing of genetic testing in this study and what that meant ultimately in terms of prognosis? Dr. Matteo Lambertini: In this specific analysis from this large network, including almost 5,000 women with breast cancer diagnosed at the age of 40 years or younger and being a BRCA carrier, we looked specifically into the timing of genetic testing because this is a retrospective study and the criteria for inclusion are those that I have just mentioned, so diagnosis at a young age plus carrying germline BRCA pathogenic or likely pathogenic variant. In this analysis, we have looked into the time the patient has got the genetic testing and particular we focused on two populations: those that were diagnosed, knowing already to be a BRCA carrier, and those that got tested after being diagnosed with breast cancer. And the main findings from this analysis have been that knowing to be a BRCA carrier was associated with a lower stage at the time of diagnosis, meaning more T1 tumors, so a tumor less than 2 cm, more node-negative disease, and this translated into less aggressive treatment, so less often axillary dissection, less often use of chemotherapy and anthracycline-based chemotherapy. And even more importantly, we have seen a better overall survival for those patients that were diagnosed already knowing to be BRCA carriers as compared to those tested after breast cancer diagnosis. These results after adjusting for all the confounding, stage, treatment and so on, there was not significant anymore, meaning that it's not the timing of test per se that is probably leading to a better survival, but it is the fact that knowing to be a BRCA carrier would likely translate into having access to all the preventive measures that we have in this setting and this will translate into an overall survival benefit, so in terms of saving more lives in young BRCA carriers. Dr. Monty Pal: I think it's such an important point, and it's one that I think might sound implicit, right, but it needs to be proven, I think, through a study like this. You know, the fact that finding this early, identifying the mutation, doing enhanced screening, and so forth, is really going to lead to superior clinical outcomes. One of the things that I think many people puzzle over, including myself, is what to do? I personally occasionally will see BRCA altered patients in the context of prostate cancer. But that's a very different population of individuals, right? Typically older men. In young females with BRCA mutation, I guess there's a specific set of considerations around reproductive health. You'd already highlighted preventive strategies, but what sorts of things should we be talking about in the clinics once a patient's diagnosed and once perhaps their breast cancer diagnosis is established? Dr. Matteo Lambertini: Yes, exactly. Knowing to be a BRCA carrier has a lot of implications from prevention to treatment to survivorship issues including reproductive counseling. And this is important not only for the patient that has been diagnosed with breast cancer but also for all the family members that will get tested and maybe identify with this sort of genetic alteration before diagnosis of cancer. Why this is important is because we have access to very effective preventive measures, a few examples: MRI screening, which starts at a very young age and normally young women don't have an effective screening strategy outside the BRCA field. Also, primary preventive measures, for example, risk-reducing surgery. These women are known to have a high risk of breast cancer and high risk of ovarian cancer. So the guidelines are suggesting to undergo risk-reducing salpingo-oophorectomy at a young age, so 35 to 40 years in BRCA1 carrier, 40 to 45 years in BRCA2 carrier. And also risk-reducing mastectomy should be discussed because it is a very effective way to prevent the occurrence of breast cancer. And in some situations, including the setting that we are talking about, so young women with breast cancer, BRCA carrier, also risk-reducing mastectomy has shown to improve overall survival.  On the other side, once diagnosed with breast cancer, nowadays knowing to be or not a BRCA carrier can make a difference in terms of treatment. We have PARP inhibitors in the early setting, in the adjuvant setting as well as in the metastatic setting. And in terms of survivorship implication, one of the critical aspects for young women is the oncofertility care which is even more complicated when we talk about BRCA carriers that are women candidates for gynecological surgery at a very young age. So this sort of counseling is even more complicated. Dr. Monty Pal: One of the other things, and this is subtle in your paper and I hope you don't mind me bringing it up, is the difference between BRCA1 and BRCA2. It really got me thinking about that because there are differences in phenotype and manifestation. Do you mind just expanding on that a little bit for the audience because I think that's a really important reminder that you brought up in the discussion? Dr. Matteo Lambertini: The difference between BRCA1 and BRCA2 carriers has been known that there are different phenotypes of breast cancer that are more often diagnosed in these two different populations. Normally BRCA1 carriers have a higher likelihood to develop a triple negative breast cancer as compared to BRCA2 carriers, more likely to develop a hormone receptor-positive HER2-negative disease. In this study, again, a specific population of young women with breast cancer, we have seen the same findings, mostly triple negative disease in BRCA1 carrier, mostly luminal-like disease in BRCA2 carrier. But what's novel or interesting from this study is to look also at the age at the time of diagnosis of this disease. And particularly in BRCA1 carriers, we should be sort of more careful about diagnosis of breast cancer and also other primary tumors including ovarian cancer because the risk of developing these malignancies is higher even at a younger age as compared to BRCA2 carriers. And this has implications also in the primary and secondary prevention that we were talking about earlier. Dr. Monty Pal: Oh, interesting. I guess the fundamental question then from your paper becomes, how do we get at the right patients for screening for BRCA1 and BRCA2? And I realize our audience here is largely oncologists who are going to be listening to this podcast, oncology providers, MDs, nurses, etc. But maybe speak for a moment to the general practitioner. Are there things that, for instance, a general practitioner should be looking for to say, “Wait a minute, this patient's high risk, we should consider BRCA1, BRCA2 testing or germline screening”? Dr. Matteo Lambertini: Yes, it's a very important question for the breast cancer community. After the updated ASCO guideline, the counseling is way easier because right now the age cutoff goes up to 65 years, meaning that all the patients diagnosed with breast cancer below the age of 65 years should be tested these days. And then above the age of 65, there are different criteria like triple-negative disease or family history. From a general practitioner standpoint, it's of course a bit more difficult, but knowing particularly the family history of the person that they have in front will be crucial to know if there are cases of breast cancer diagnosed at a young age, maybe triple-negative cases, knowing cases of ovarian cancer in first-degree relatives or pancreatic cancer in first-degree relatives, and of course cases of prostate cancer as well. So, I would say probably mostly the family side will be important from a general practitioner perspective.  From an oncology one, the other point that I think is important to stress also based on the data that we have shown in this publication is that having a case of breast cancer known to carry a BRCA pathogenic or likely pathogenic variant. It means that all the people around this case should get tested and if found to be BRCA carrier and healthy carrier, these people should also undergo the primary and secondary prevention strategies because this is very critical also to improve their outcomes and try to avoid the developing of breast or ovarian cancer, but also in the case of diagnosis of this disease, a diagnosis at an earlier stage, as we have seen in this paper. Dr. Monty Pal: Brilliant. I'm going to diverge from our list of questions here and close by asking a question that I have at the top of my mind. You're very young. I know our podcast listeners can't see you, but you're very, very young. Dr. Matteo Lambertini: Thank you. Thank you for that. Not so young but yeah. Dr. Monty Pal: You have nearly 300 papers. Your H-index is 67. You've already made these seminal contributions, as I outlined it from the outset, regarding fertility, regarding use of GnRH analogs, regarding pregnancy and breast cancer. What are you studying now? What are you really excited about right now that you're doing that you think might potentially be practice changing? Give us a little teaser. Dr. Matteo Lambertini: Yeah. Thanks a lot, Dr. Pal. Receiving this compliment from you is fantastic. So, thanks a lot for that. From my side, in terms of my research, I've been interested in the field of breast cancer in young women since the start of my training. I've had very good mentors from Italy, from Europe, from the U.S. I'm still interested in this field, so I think we still have a lot to learn to try to improve the care of young women with breast cancer. For example, the oncofertility care, which is something I worked a lot over the past years. Now with all the new treatment options, there's a sort of new chapter of oncofertility counseling. So, what's the impact of immunotherapy? What's the impact of the new targeted agents?  More on the genetic aspects, now we know that there's not only BRCA1 or BRCA2. There are a lot of other different genes that may increase the risk of breast cancer and other malignancies. And also for these genes, we really don't have a lot of evidence to counsel women on prognosis, treatment, prevention strategy. So we need to learn way more for this special patient population that are quite rare, and so we really need a multicenter academic effort to try to give some evidence in this field. Dr. Monty Pal: Yeah. It's tough because these are rare circumstances, but, you know, I think that you've done really well to sort of define some collective experiences that I think really define therapy. I mean, I just remember when I was in training 25 years ago, just reading through textbooks where all the experience around breast cancer and pregnancy was really just very sort of anecdotal almost, you know? And so it's great to see that the state of the science has moved forward.  Well, gosh, I really enjoyed our conversation today. I think your study really reminds us how powerful genetic information is in terms of improving outcomes. And, you know, hopefully this will lead some individuals to perhaps test more broadly in appropriate settings. So, thank you so much, Matteo, for joining us today with your fantastic insights on the ASCO Daily News Podcast. Dr. Matteo Lambertini: Thank you very much, Dr. Pal. It's a real pleasure. Dr. Monty Pal: And thanks to our listeners too. You'll find a link to Dr. Lambertini's study in the transcript of this episode. Finally, if you value the insights that you heard today on the ASCO Daily News Podcast, please rate, review, and subscribe wherever you get your podcasts. Thanks a ton. 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. Find out more about today's speakers:    Dr. Sumanta (Monty) Pal  @montypal  Dr. Matteo Lambertini @matteolambe   Follow ASCO on social media:     @ASCO on Twitter    ASCO on Bluesky   ASCO on Facebook     ASCO on LinkedIn     Disclosures:    Dr. Monty Pal:   Speakers' Bureau: MJH Life Sciences, IntrisiQ, Peerview  Research Funding (Inst.): Exelixis, Merck, Osel, Genentech, Crispr Therapeutics, Adicet Bio, ArsenalBio, Xencor, Miyarsian Pharmaceutical  Travel, Accommodations, Expenses: Crispr Therapeutics, Ipsen, Exelixis  Dr. Matteo Lambertini: Consulting or Advisory Role: Roche, Novartis, Lilly, AstraZeneca, Pfizer, MSD, Exact Sciences, Gilead Sciences, Seagen, Menarini, Nordic Pharma Speakers' Bureau: Takeda, Roche, Lilly, Novartis, Pfizer, Sandoz, Ipsen, Knight Therapeutics, Libbs, Daiichi Sankyo, Gilead Sciences, AstraZeneca, Menarini, AstraZeneca, Menarini Research Funding (Inst.): Gilead Sciences Travel, Accommodations, Expenses: Gilead Sciences, Daiichi Sankyo Europe GmbH, Roche

This week on Health Matters, Courtney talks with Dr. Vivian Bea, Chief of Breast Surgical Oncology, and Dr. Evelyn Taiwo, a medical oncologist, at New York Presbyterian Brooklyn Methodist Hospital and Weill Cornell Medicine. For Breast Cancer Awareness Month, they discuss why breast cancer is on the rise among younger women, breast cancer risk factors, and the importance of screening. Dr. Bea and Dr. Taiwo also answer common questions about breast cancer, such as what age you can stop screening, and whether common items like deodorant or cell phones increase breast cancer risk.___Vivian Jolley Bea, MD, is Section Chief of Breast Surgical Oncology in the Department of Surgery at NewYork-Presbyterian Brooklyn Methodist Hospital. Dr. Bea received her masters degree in biology from Drexel University and her medical degree from Morehouse School of Medicine. Board certified in general surgery, Dr. Bea is an active member in numerous professional organizations, including the American College of Surgeons, American Society of Breast Surgeons, Society of Surgical Oncologists, and the Society of Black Academic Surgeons. Dr. Bea's areas of interest include breast cancer, benign breast disease, inflammatory breast disease, and high-risk management. She specializes in skin-sparing and nipple sparing mastectomies as well as oncoplastic breast conservation surgery. Dr. Bea is committed to community outreach, research, and eliminating breast cancer disparities.Dr. Evelyn Taiwo, MD, is a medical oncologist at NewYork-Presbyterian Brooklyn Methodist Hospital. She obtained her MD at Temple University School of Medicine in Philadelphia. Following her residency at Boston University Medical Center, she completed a three-year fellowship in hematology and oncology at the University of Texas Southwestern Medical Center in Dallas. Prior to joining Weill Cornell Medicine, Dr. Taiwo served as Assistant Professor of Medicine at the State University of New York, Downstate Medical Center in Brooklyn from July 2011-2019, and as Attending Physician and Site Director for the Hematology-Oncology Fellowship Program at Kings County Hospital. While at Kings County Hospital, she served in a leadership role as Director of the Breast Cancer Clinic, overseeing the operations, research activities, clinical care delivery, and education. As a researcher, Dr. Taiwo has contributed to a number of studies on cancer presentation in urban and minority patient populations.___Health Matters is your weekly dose of health and wellness information, from the leading experts. Join host Courtney Allison to get news you can use in your own life. New episodes drop each Wednesday.If you are looking for practical health tips and trustworthy information from world-class doctors and medical experts you will enjoy listening to Health Matters. Health Matters was created to share stories of science, care, and wellness that are happening every day at NewYork-Presbyterian, one of the nation's most comprehensive, integrated academic healthcare systems. In keeping with NewYork-Presbyterian's long legacy of medical breakthroughs and innovation, Health Matters features the latest news, insights, and health tips from our trusted experts; inspiring first-hand accounts from patients and caregivers; and updates on the latest research and innovations in patient care, all in collaboration with our renowned medical schools, Columbia and Weill Cornell Medicine.To learn more visit: https://healthmatters.nyp.org Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

Genetic testing can lead to early cancer diagnosis and save lives. Deena Wahba discusses genetic testing, BRCA mutations and how results can guide breast cancer screening and prevention. 

Before the Pink Ribbon, talking about breast cancer was taboo. In this episode, we uncover the shocking and inspiring history of breast cancer awareness and the three women who defied a dismissive medical establishment to save millions of lives. Author Judith L. Pearson joins us to discuss her groundbreaking book, "Radical Sisters," revealing how Shirley Temple Black, Rose Kushner, and Evelyn Lauder launched a revolution from their hospital beds and boardrooms. How did a child star, a determined journalist, and a cosmetics mogul tear down the wall of silence and change medicine forever?This deep dive into the evolution of breast cancer advocacy explores the dark ages of treatment and the courageous fight for patient rights. Judith L. Pearson details the brutal radical mastectomy history, specifically the disfiguring Halstead radical mastectomy, a procedure that persisted long after it was proven ineffective. We revisit the pivotal moment of Shirley Temple Black breast cancer advocacy when the beloved star held an unprecedented 1972 press conference from her hospital room, urging women not to be afraid and to perform self-exams. The episode then follows the tenacious activist Rose Kushner and the one-step procedure, a barbaric practice where women went in for a biopsy and woke up with their breasts removed without their consent. Kushner's relentless research and in-your-face advocacy, including a daring appearance on the Donahue show, forced the medical community to confront its paternalism. Finally, we explore the origins of the Evelyn Lauder Pink Ribbon Campaign and her "department store" concept for cancer care at Memorial Sloan Kettering, which was born from the frustrating and fragmented patient experience. This interview sheds light on the complete history of breast cancer awareness, from comparing the fight for funding to the AIDS movement to the discovery of the BRCA gene mutation, revealing a story of courage, tragedy, and ultimate triumph.About Our Guest:Judith L. Pearson is an author and historical biographer specializing in uncovering the stories of overlooked heroes. In her book, "Radical Sisters: The Women Who Pushed for and Paved the Way to Breast Cancer Awareness," she reveals the untold story of the three women whose personal battles and public advocacy transformed medicine and created the modern breast cancer movement.Timestamps / Chapters:(00:00) The Three Women Who Transformed Breast Cancer Awareness(03:31) Shirley Temple Black's Groundbreaking 1972 Announcement(06:05) Rose Kushner's Daring Appearance on the Donahue Show(09:07) The Near-Death Experiences That Shaped the "Radical Sisters"(14:38) How Shirley Temple's Press Conference Changed Everything(19:22) The Brutal History of the Halstead Radical Mastectomy(24:19) Rose Kushner's Fight Against the "One-Step Procedure"(29:56) Evelyn Lauder's Philanthropic Vision Before and After Her Diagnosis(32:28) Learning from the AIDS Movement to Fight for Funding(36:04) Evelyn Lauder's "Department Store" Concept for Cancer Care(40:10) The True Origin Story of the Pink Ribbon Campaign

Featuring an interview with Prof Peter Schmid, including the following topics: Response to immunotherapy in breast cancer subtypes (0:00) Tolerability of TROP2 antibody-drug conjugates (ADCs) for metastatic breast cancer (mBC) (3:51) Approaches to therapy for patients with HR-negative HER2-low and HER2-ultralow mBC (13:03) ADC structure and treatment-related adverse events (19:02) Available data from the Phase III ASCENT-04 trial evaluating sacituzumab govitecan with pembrolizumab as first-line therapy for patients with PD-L1-positive advanced triple-negative breast cancer (23:06) Novel ADCs and bispecific antibodies under investigation for mBC (28:30) Comparing datopotamab deruxtecan and sacituzumab govitecan for HR-positive disease (33:01) Clinical investigator perspectives on the Phase III DESTINY-Breast09 trial evaluating first-line trastuzumab deruxtecan with or without pertuzumab versus THP (docetaxel/rastuzumab/pertuzumab) for HER2-positive mBC (35:06) CME information and select publications

Paula und Alex haben Nicole Kultau zum zweiten Mal im Podcast – und diesmal geht's um ein großes Thema: BRCA-Gene und Brustkrebs. Fakten statt Furcht. Keine Panik, kein Fachchinesisch, sondern Klartext. Sie schnappen sich die größten Mythen rund um Brustkrebs, drehen sie auf links und zeigen: Wissen und Informationen sind gute Begleiter gegen Ängste und Unsicherheiten in Bezug auf medizinische (Mit-) Entscheidungen. Und weil am 22.09. die BRCA Awareness Week startet, laden wir euch herzlich ein reinzuhören. Weitere Informationen erhaltet ihr unter brustkrebs.de/brca Wir bedanken uns bei AstraZeneca und MSD Sharp & Dohme für die freundliche Unterstützung dieser Folge. Nicole: https://www.prinzessin-uffm-bersch.de/ https://www.instagram.com/prinzessin_uffm_bersch?igsh=ZXF0eWMzYTBuOXU4 Quellen: Deutsche Krebshilfe: Familiärer Brust- und Eierstockkrebs, Blaue Ratgeber, https://www.krebshilfe.de/infomaterial/Blaue_Ratgeber/Familiaerer-Brust-und- Eierstockkrebs_BlaueRatgeber_DeutscheKrebshilfe.pdf [zuletzt abgerufen: 15.08.2025]. Arnemann, J. (2019). Keimbahnmutation. In: Gressner, A.M., Arndt, T. (eds) Lexikon der Medizinischen Laboratoriumsdiagnostik. Springer Reference Medizin. Springer, Berlin, Heidelberg. Leitlinienprogramm Onkologie (Deutsche Krebsgesellschaft, Deutsche Krebshilfe, AWMF): S3-Leitlinie Früherkennung, Diagnose, Therapie und Nachsorge des Mammakarzinoms, Version 4.4, 2021, AWMF Registernummer: 032-045OL, http://www.leitlinienprogramm-onkologie.de/leitlinien/mammakarzinom/ [letzter Zugriff: 12.08.2025] Deutsches Konsortium Familiärer Brust- und Eierstockkrebs. Kostenübernahme. Online unter: https://www.konsortium- familiaerer-brustkrebs.de/betreuungskonzept/molekulare-diagnostik/kostenuebernahme/ [Letzter Zugriff: 15.08.2025]. Onko Internetportal der deutschen Krebsgesellschaft. (2022). Online unter: https://www.krebsgesellschaft.de/onko- internetportal/basis-informationen-krebs/krebsarten/brustkrebs/brustkrebs-bei-maennern.html [letzter Zugriff: 12.08.25)

Prof Peter Schmid from Barts Cancer Institute in London reviews available efficacy and safety data guiding the optimal management of metastatic triple-negative breast cancer. CME information and select publications here.

Featuring a slide presentation and related discussion from Prof Peter Schmid, including the following topics: Evolution of the therapeutic landscape for metastatic triple-negative breast cancer; age of immunotherapy (0:00) Case: A woman in her early 40s with no actionable mutations (7:29) Evolution of antibody-drug conjugates (ADCs) in the management of metastatic breast cancer (11:13) TROP2-directed ADCs (15:22) Case: A woman in her early 50s with PD-L1-negative, HR-negative, HER2-low de novo metastatic breast cancer (20:21) Novel strategies utilizing approved and investigational ADCs (23:28) Case: A woman in her early 60s with loss of HER2 expression on disease progression (31:39) ADCs in combination with immunotherapy (32:51) CME information and select publications

Today, I am honored to connect with Rachel Frankenthal, a board-certified physician assistant with a master's degree in public health, specializing in gynecologic oncology. Rachel is on the staff at UCLA Health, where she treats women with gynecologic cancers and women at high risk for uterine or ovarian cancer due to genetic mutations or a strong family history.  In our discussion, we unpack GYN oncology, covering the five GYN cancers, why ovarian cancer is the silent killer, and the labs and ultrasounds to help screen for ovarian cancer. We dive into genetics, including BRCA mutations and Lynch syndrome, appropriate genetic counseling, and what Rachel considers when dealing with younger patients still at peak fertility versus older patients. We explore the importance of HRT utilization for cancer previvors, the effects of pelvic radiation, vaginal and sexual health, and what thriving looks like after cancer. Rachel shares her stepwise approach to hot flashes, and we also discuss the importance of lifestyle, bone health, and specific research on the benefits of GLP-1s for women with ovarian and endometrial cancer.  This conversation is especially relevant as we are in GYN and Ovarian Cancer Awareness Month. I look forward to having Rachel back again, hopefully later this fall, to discuss the use of hormone replacement therapy with GYN oncology survivors. IN THIS EPISODE, YOU WILL LEARN: How the lack of effective screening makes ovarian cancer hard to detect due to  How BRCA and Lynch syndrome influence cancer risk and treatment choices The benefits of HRT for cancer previvors Risks that arise from surgical menopause without sufficient or properly dosed HRT Why less than 50% of eligible women actually receive hormone therapy How pelvic radiation impacts menopause, vaginal tissue, bladder, and GI health The support that is crucial for cancer survivors after pelvic radiation Lifestyle factors to improve cancer treatment outcomes   Rachel shares her stepwise approach to managing hot flashes  What GLP-1 research reveals about reducing ovarian cancer mortality and endometrial cancer risk Bio: Rachel Frankenthal Rachel Frankenthal is a board-certified and licensed Physician Associate and Menopause Society Certified Practitioner with a Master's in Public Health. She specializes in gynecologic oncology, treating women with gynecologic cancers as well as women at high risk for uterine or ovarian cancer due to genetic mutations. Rachel has a special passion for menopause and midlife women's healthcare. She developed the menopause clinic for gynecologic cancer survivors and previvors at UCLA and has played an integral role in developing the GYN cancer survivorship program, where she teaches the weekly yoga and meditation class. Rachel lectures at UCLA and across the country on the importance of comprehensive menopause care in cancer survivorship and has created a course on hormone therapy for gynecologic cancer survivors through the Heather Hirsch Academy. In addition to being a medical practitioner, Rachel is a certified yoga and Pilates instructor, a prior Broadway performer, and an advocate for integrative, holistic health. Connect with Cynthia Thurlow   Follow on X, Instagram & LinkedIn Check out Cynthia's website Submit your questions to support@cynthiathurlow.com Connect with Rachel Frankenthal On Instagram

For years, Jenna Wolfe was a familiar face on NBC's Today Show and Weekend Today, delivering news with humor and heart. Behind the scenes, she was on a deeply personal journey—building a family with her partner, fellow NBC journalist Stephanie Gosk. Over a decade ago, Jenna made headlines when she came out publicly on the show and announced she was expecting their first child. What the headlines didn't reveal were the intimate realities behind that moment—from navigating fertility treatments to selecting a sperm donor and not knowing how the national viewing audience would react to her coming out. In this inspiring episode, Jenna speaks with pride about her family and stepping into motherhood, a role she never imagined but deeply cherishes, living with the BRCA gene, and the resilience she's built through life's challenges. We're also joined by Dr. Nicole Ulrich, Reproductive Endocrinologist and Director of Advocacy at The Fertility Institute, part of the First Fertility Network. She offers fertility education that so many of us wish we knew and insights on the importance of self-advocacy in reproductive health.This episode is presented by First Fertility, a network of clinics in 14 states supporting all paths to parenthood. For more, visit FirstFertility.com. Hosted on Acast. See acast.com/privacy for more information.

Emotional lability, anxiety, crying jags. Welcome to perimenopause. 70% of women experience depressive symptoms and alterations in mood when estrogen levels plunge or start to fluctuate.  While many factors increase the risk, there is no denying that changes in hormone levels have something to do with anxiety, mood, and depression, even in people who never had issues before perimenopause.     Dr. Pauline Maki is a world-renowned expert in menopause, mood, cognition, and the impact of menopause on the brain. She has authored hundreds of scientific articles and leads a National Institutes of Health (NIH) funded research program on women, cognition, mood, and dementia.  In this episode, we take a deep dive into the science of why women have mood alterations and depression when estrogen levels start to fluctuate.   In this episode:  ·      What it was like to participate in Dr. Jill Biden's  White House Initiative on Women's Health Research ·      The difference between depressive symptoms, mood alteration and depression ·      The risk of recurrence if there is a history of depression during perimenopause ·      The risk of developing depression if there is no history of depression ·      The risk of developing mood alterations if there is no history of depression ·      Windows of vulnerability (pregnancy, post-partum, perimenopause)  ·      What is occurring hormonally in the brain at the level of progesterone and estrogen receptors  ·      The Science Behind Risk Factors for developing depressive symptoms or depression during perimenopause o   Early menopause o   BRCA mutations o   History of major depressive disorder o   Hormone sensitivity in the brain o   Severe menopause symptoms  o   Childhood experiences o   Current life stressors ·      Treatment Options for Perimenopausal Depressive Symptoms o   No treatment- when will it go away? o   Cognitive Behavioral Therapy o   SSRIs o   Hormone Therapy o   NK3 Agonists  o   Progesterone?

Throughout the years, we've always been scared of Breast Cancer and the possession of the BRCA gene which may indicate its presence - but did you know it's one of the more curable forms of cancer with a 99% survival rate when detected early?This is the journey Beyond BRCA—where we explore not just the mutation, but the terrain it travels through. Where we ask: What does it mean to fly with purpose, even when the skies are uncertain? And how can we equip the next generation of with the tools to navigate their own health?Today we highlight how knowing your BRCA status isn't the destination but the beginning of taking ahold of your health. Here are the highlights of today's episode:The Limits of BRCAHow BRCA1/2 became the most recognized breast cancer genesWhy most breast cancers are not BRCA-relatedEmotional impact of isolated genetic results without terrain context Recent Statistics & Relevant Data Other Genetic Pathways Detoxification genes: GST, CYP1A1, CYP1B1, COMTHormone metabolism, oxidative stress, inflammationFunctional genomics Genes Are Not Destiny Genetic predisposition vs. tipping pointsReal-world examples of risk reductionEpigenetics Tools for Prevention & Precision HealthDNA360 Test metabolism, DNA repairBreast360 TestGrail Liquid BiopsyActionable Strategies ______________________________________________________Keep yourself up to date on The DNA Talks Podcast! Follow our socials below:The DNA Talks Podcast Instagram: https://www.instagram.com/dnatalkspodcast/______________________________________________________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.

Osteosarcoma Webinar Series: Yanding Zhao, PhD to discuss how Distinct patterns of chromosomal instability fuel osteosarcoma progression and influence patient outcomes.Osteosarcoma (OS) is notable for extreme chromosomal instability (CIN) and molecular heterogeneity, which have hindered therapeutic progress. To address this, the lab performed longitudinal and multi-modal profiling of 91 tumors from 71 pediatric patients, integrating whole-genome and transcriptome sequencing with ATAC-seq and Hi-C in matched cell lines. Their analyses revealed that key driver mutations, including TP53, are fixed early and persist through progression. Over 80% of tumors exhibited complex structural alterations—such as chromothripsis, kataegis, loss of heterozygosity, and ecDNA amplification—with MYC enhancer hijacking linked to chemoresistance. They identified a high-risk evolutionary trajectory marked by homologous recombination deficiency (HRD)-like signatures in the absence of BRCA mutations. These tumors showed focal duplications at fragile sites, early whole-genome doubling, high TP53 mutation burden, and sensitivity to PARP inhibition—highlighting a potential therapeutic vulnerability. Together, these findings define a replication stress–driven model of OS evolution, shaped by early chromosomal remodeling and ecDNA-mediated oncogene activation, with implications for biomarker development and precision treatment strategies.Dr. Yanding Zhao is a postdoctoral researcher at Stanford University in the lab of Dr. Christina Curtis. He earned his PhD in Genetics from Dartmouth College, where he began developing computational tools to understand how genome instability disrupts gene regulation in cancer. At Stanford, his research focuses on pediatric osteosarcoma. By combining genome sequencing, 3D chromatin mapping, and spatial transcriptomics, he studies how tumors evolve, resist treatment, and evade the immune system. Dr. Zhao works closely with clinicians and scientists to help turn these discoveries into potential new therapies. He is honored to be part of the MIB Agents community and looks forward to sharing his work in a way that resonates with patients, families, and advocates.

Meredith Hilliard, armed with the knowledge of her BRCA gene and her family's history, decided to have a robotic prophylactic mastectomy to avert the disease that haunted her relatives. Supported by her community and inspired by her mother’s experience, she became one of the first in Texas to try this innovative procedure. Her story is one of preparation, courage, and hope for a cancer-free future. Support The Rose HERE. Subscribe to Let’s Talk About Your Breasts on Apple Podcasts, Spotify, iHeart, and wherever you get your podcasts. Key Questions Answered 1. Who is Meredith Hilliard, and what makes her story unique? 2. How did Meredith learn about breast cancer at a young age? 3. What is the BRCA gene, and how did Meredith’s family discover they were carriers? 4. How did having a family history and the BRCA gene influence Meredith’s decisions about her health? 5. What is a prophylactic mastectomy and why did Meredith choose to have one? 6. How did Meredith feel during the regular surveillance (MRI and mammograms) before surgery? 7. What support did Meredith have during her decision and surgery? 8. What is a robotic mastectomy, and how did Meredith become a candidate for this procedure? 9. What was Meredith’s experience with reconstruction following her mastectomy? 10. How does Meredith feel about her decision in hindsight? Timestamped Overview 00:00 Secret Struggles with Cancer 04:23 Early Diagnosis Key to Discovery 08:03 BRCA Gene and Cancer Anxiety 11:23 Robotic Mastectomy Experience 15:02 Family Health and Surgery Discussion 18:26 Referral to MD AndersonSee omnystudio.com/listener for privacy information.

Host Matt Burgess interviews Gidon Schwartz from Genetics, a UK charity offering pre-conception carrier screening and partnering with the NHS to increase access to BRCA and carrier testing for people with Jewish ancestry. They discuss why ancestry matters for certain recessive conditions, how testing and outreach have evolved, ethical and identity challenges around asking about ethnicity, and where to find resources and genetic counseling.

" When I eventually figured out my food intolerances and a better relationship with fueling, I brought [my marathon PR] down to 2:44 within a little under a year." Jenny Grimshaw, VP of marketing at EQUIP*, and now a 2:36 marathoner, joins us on the Lane 9 podcast. Jenny is also a mom of 2, and navigating prophylactic surgeries to reduce her risk of breast and ovarian cancers (with the BRCA-1 gene). Her postpartum running experiences have been full of PRs, as she has figured out her own fueling needs, how to balance her identity as a runner with all the other things she does, and has worked with a coach to better balance her training volume and find her confidence as a runner.  Jenny shares: her early experiences with food intolerances and GI distress that were assumed by physicians to be anorexia, but would later be more correctly classified as ARFID the anxiety and panic attacks that she dealt with as a young runner, and injuries that plagued her through college, related to fueling, mental health, and wanting to explore life outside of running why she got into longer distances after her collegiate T&F years the gastroenterologist appointment that changed everything for her how she brought her marathon PR from a 3:13 to a 2:36 (not to say "you can, too!" but to give just one example of how fueling and mental health impact our experiences in sport) why she was drawn to EQUIP, and her role there *EQUIP is a virtual eating disorder treatment company that offers care in all 50 states. They're also part of the Lane 9 Directory. Connect with Jenny Grimshaw on Instagram @jenny_gshaw, and follow her training for her next marathon! Follow @Lane9project on Instgram, and subscribe to our weekly newsletter here.  Connect with a clinician near you, and find your full team of women's health and sport providers, by going to Lane9Project.org/directory. If you don't see what you're looking for, fill out our Athlete Match Form, and we'll find someone for you!

Can we talk about how we've been fed complete BS about menopause and our hormones? I mean, seriously—the amount of fear-mongering and misinformation out there is making me want to throw things. But lucky for us, Dr. Kelly Casperson is here to set the record straight, and trust me, this conversation is about to blow your mind. If you've ever felt like you're going crazy during perimenopause or been told you're "too young" or "too old" for hormone therapy, this episode is your wake-up call.Dr. Kelly is a urologist turned women's health warrior who's dedicating her life to educating women about what's actually happening to our bodies during this transition. In today's episode, we're diving deep into the real facts about hormone replacement therapy, busting myths that have kept women suffering unnecessarily, and talking about why the medical establishment has failed us so spectacularly. This isn't just another menopause chat—this is your roadmap to reclaiming your power during midlife.What You'll Learn in This Episode:Why the 2002 Women's Health Initiative study created decades of hormone fear and how the media completely twisted the resultsThe truth about hormone pellets and why they might not be the silver bullet you think they areHow to advocate for yourself when doctors dismiss your symptoms as "natural"The real story behind "estrogen dominance" and why that lab test might be misleading youWhy testosterone isn't just for men and how it can transform your energy and moodThe connection between hormones and brain fog, and why your forgetfulness isn't early dementiaHow to find qualified menopause specialists and what questions to askThe surprising ways exercise and protein can impact your hormone healthReady to stop suffering in silence and start living your best midlife? Let's dive into this game-changing conversation that every woman over 40 needs to hear. Have you been struggling with symptoms that doctors keep dismissing as "just part of getting older"? WATCH ON YOUTUBE if that's your jam: https://youtu.be/9SlS4F-QtLcConnect with me on Instagram and let me know what resonated most with you from this episode. Resources MentionedDr. Kelly Casperson's book: "The Menopause Moment"Dr. Kelly's Instagram: instagram.com/kellycaspersonmd/Dr. Kelly's website: kellycaspersonmd.comInternational Society for the Study of Women's Sexual Health (ISHWISH)MIDI Health, Evernow, Alloy, GenEv, InterludeThe Casperson Clinic (Washington State) Quotes from Dr. Kelly Casperson"Women get, you're either too young for this or you're too old for this. Men never get told they're too young or too old for something." (08:29)"If there is a drug that you could take between the ages of 50 and 60, and several studies have shown it decreases your risk of death and helps you live maybe about two years longer, do you think everybody would be on that drug? Yeah, that drug's called estrogen." (30:47)"The best way to control a woman? Give her fear. Control her. How do we control her? Keep her afraid." (38:58)"Don't just brace yourself for hell, people. Get educated and advocate." (37:30)"Hair hates drastic changes. And that's why like if you have low hormones and you throw a pellet in, some people might experience some hair loss with it." (35:23) Key Timestamps00:03 - Introduction and the five orgasms story 01:54 - Dr. Kelly's background as a urologist 06:20 - The 2002 Women's Health Initiative study explained 08:04 - Myths about being "too young" or "too old" for hormones 10:11 - The truth about hormone pellets 14:24 - Lab testing and "estrogen dominance" myth 16:39 - Why we treat symptoms, not just numbers 20:27 - Brain fog and hormone connection 28:17 - Hot flashes and what causes them 32:01 - The benefits of taking estrogen 34:41 - Testosterone for women 37:05 - BRCA patients and hormone therapy Tips/TakeawaysStop using "natural" as an excuse not to treat symptoms - erectile dysfunction and cancer are natural too, but we treat those."Estrogen dominance" is just a snapshot of one day - don't hang onto that label as a fixed trait.Treat symptoms, not just lab numbers - if you're suffering, that's reason enough for treatment.Hair follicles hate sudden hormone changes - start low and go slow with any hormone therapy.Exercise is brain medicine - quadriceps strength is directly linked to dementia prevention.Protein needs increase with age - aim for about 1 gram per pound of body weight to build muscle. Be sure to rate, review, and follow this podcast on your player and also, connect with me IRL for more goodness and life-changing stuff.Schedule a FREE podcast clarity call with me - Your future audience is out there. Talk to them!Sign up for the free Reinvention Roadmap weekly emailAllisonHare.comFollow me on Instagram, LinkedIn, Facebook, and YouTube.DOWNLOAD the free podcast equipment guide- No guesswork, no google rabbit holes, start recording todayReb3l Dance Fitness - Try it at home! Free month with this link.Personal Brand - need help building yours? Schedule a call with me here and let's discuss.Feedback and Contact:: allison@allisonhare.com

Send us a textOvarian cancer, the second most common gynecologic malignancy, can be cured 90-95% of the time when caught early. Speaking of Women's Health Podcast Host talks through the risk factors like family history, BRCA gene mutations, obesity, and personal reproductive factors that are essential for early detection and prevention.• Risk increases with age (over 50), family history, and BRCA gene mutations• BRCA1 carriers face 35-70% lifetime risk compared to less than 2% in general population• Pregnancy, breastfeeding, and hormonal contraceptives reduce risk by decreasing ovulation• Tubal ligation, especially salpingectomy, dramatically lowers ovarian cancer risk• Common symptoms include abdominal swelling, urinary changes, bloating, early satiety• Regular pelvic exams and prompt reporting of symptoms are crucial for early detection• Ashkenazi Jewish women have ten times higher rate of BRCA mutations• Avoid using talcum powder near genital area as it's been linked to increased risk• Consider genetic counseling if strong family history exists• Prophylactic removal of tubes/ovaries after age 40 may be recommended for high-risk womenPlease follow the Speaking of Women's Health podcast wherever you listen to podcasts. Remember Be Strong, Be Healthy, and Be in Charge!Support the show

What if your DNA could hold the answers to your migraines, mental health struggles, or even your future risk of disease?

In this episode of HYDRATE, Tracy sits down with Kashif Khan, the CEO, and Founder of The DNA Company and bestselling author of The DNA Way, where he pioneers a functional approach to genomic interpretation.Growing up in an immigrant household, Kashif developed an industrious entrepreneurial spirit from a young age. After building and advising numerous high-growth start-ups, the high-paced environment led to his health declining in his mid-30s. Faced with multiple chronic diseases and offered only pills to manage the symptoms, Kashif went on a journey to heal himself by understanding the root cause of his health issues through his own DNA, which inspired him to start The DNA Company.Together, Tracy and Kashif explore the outdated healthcare system and the overwhelming impact of environmental toxins on our hormones and overall health. Kashif breaks down the science of how genetics determine our response to these toxins, causing some individuals to be more susceptible to issues like perimenopause, infertility, and even breast cancer. He debunks the myths surrounding the BRCA gene, explaining the real genetic pathways that can lead to cancer and how it is all predictable and preventable. They also discuss how our unique DNA wiring predisposes us to anxiety, trauma, and even determines our personality and superpowers.If you feel stuck with your health and want to stop the guesswork, listen to this episode to understand the root cause of why you feel the way you do.Connect with Kashif:Website: thednacompany.comInstagram: instagram.com/thednaco/Connect with Tracy:Website: ⁠⁠⁠⁠⁠⁠⁠https://tracyduhs.com/⁠⁠⁠⁠⁠⁠⁠Hydration shop: ⁠⁠⁠⁠⁠⁠⁠https://sanctuarysd.com/⁠⁠⁠⁠⁠⁠⁠Instagram: ⁠⁠⁠⁠⁠⁠⁠https://www.instagram.com/tracyduhs/⁠⁠⁠⁠⁠⁠⁠Flow FAM community: https://tracyduhs.com/join-flow-fam/

Today's episode is called “Rebirth from Cancer & Trauma” and I'm joined by the radiant Dr. Neja Zupan . Over a decade ago, she was diagnosed with aggressive, hormone-dependent cancer and given only a 5% chance of survival. Carrying the BRCA gene, with a family history stacked against her, Neja made a bold choice: she said no to conventional treatments—and yes to deep energetic alignment, soul remembrance, and full-body coherence. What unfolded wasn't just healing. It was a true rebirth. She broke cycles of inherited trauma, recalibrated her frequency field, and stepped fully into her mission: helping high-achieving, intuitive women live and lead from vibrant vitality and multidimensional power—without burnout or disconnection. In this conversation, you'll hear Neja's powerful healing journey, the energetic keys to decoding trauma, and even experience a hands-on recalibration tool you can use right away. This is one of those episodes that will leave you inspired, grounded, and ready to remember what's possible. At the conclusion Neja offers a free ebook on seven steps for energetic alignment to help listeners practice these techniques as a gift to “Call IT in With Dar' listeners Support the showFull Show Notes can be found at CallITInPodcast.comPhoto credit: Rebecca Lange Photography Music credit: Kevin MacLeod Incompetech.com (licensed under Creative Commons) Production credit: Erin Schenke @ Emerald Support Services LLC. Grab Dar's Flight Deck Oracle Card DeckTake Dar's Archetype Quiz

In episode 92 of the Summits Podcast, co-hosts Vince Todd, Jr. and Daniel Abdallah are joined by Joyce Irwin, President/CEO of the Community Health Network Foundation. Tune in as Joyce shares the genetic testing that led to her double mastectomy, her pancreatic cancer diagnosis, and how she's giving back through her work at the Community Health Network Foundation.

JCO PO author Dr. Alison M. Schram at Memorial Sloan Kettering Cancer Center shares insights into her JCO PO article, “Retrospective Analysis of BRCA-Altered Uterine Sarcoma Treated With Poly(ADP-ribose) Polymerase Inhibitors.” Host Dr. Rafeh Naqash and Dr. Schram discuss relevant genomic and clinical features of patients with BRCA-altered uterine sarcoma and the efficacy of PARPis in this population. TRANSCRIPT Dr. Rafeh Naqash: Hello and welcome to JCO Precision Oncology Conversations, where we bring you engaging conversations with authors of clinically relevant and highly significant JCO PO articles. I'm your host, Dr. Rafeh Naqash, podcast editor for JCO Precision Oncology and associate professor at the OU Health Stephenson Cancer Center. Today, we are excited to be joined by Dr. Alison Schram, Associate Attending Physician and Section Head of Oral Therapeutics with Early Drug Development and Gynecologic Medical Oncology Services at the Memorial Sloan Kettering Cancer Center, and the senior author of the JCO Precision Oncology article titled, "Retrospective Analysis of BRCA-Altered Uterine Sarcoma Treated With Poly(ADP-ribose) Polymerase Inhibitors." At the time of this recording, our guest's disclosures will be linked in the transcript. Dr. Schram, thank you for joining us today. I am excited to be discussing this very interesting, unique topic based on what you published in JCO PO. Dr. Alison Schram: Thank you for having me. Dr. Rafeh Naqash: What we like to do for these podcasts is try to make them scientifically interesting but at the same time, keep them at a level where our trainees and other community oncology professionals understand the implications of what you've published. So I'd like to start by asking you, what is leiomyosarcoma for those of us who don't necessarily know a lot about leiomyosarcoma, and what are some of the treatment options for these uterine sarcomas? Dr. Alison Schram: Uterine leiomyosarcoma is a rare subtype of uterine cancer, and it represents about 1% of all female cancers in the reproductive tract. This is a rare malignancy that arises from the myometrial lining of the uterus, and it is generally pretty aggressive. In terms of the standard therapy, the standard therapy for uterine leiomyosarcoma includes chemotherapy, generally combination chemotherapy, but despite a few regimens that tend to be effective, the duration of effectiveness is relatively short-lived, and patients with advanced uterine leiomyosarcoma eventually progress and require additional therapy. I will say that localized uterine leiomyosarcoma can be treated with surgery as well. Dr. Rafeh Naqash: Thank you for that description. Now, there are two aspects to what you published. One is the sarcoma aspect, the leiomyosarcoma, and the second is the BRCA mutation. Since we are a precision medicine journal, although we've discussed BRCA a couple of times before, but again, for the sake of our listeners, could you highlight some of the aspects of BRCA and PARP sensitivity for us? Dr. Alison Schram: Yes. So BRCA is a gene that's important for DNA repair, and BRCA mutations can be either inherited as a germline mutation, so one of your parents likely had a BRCA mutation and you inherited one copy. In patients who have an inherited BRCA mutation, the normal cells tend to have one abnormal copy of BRCA, but if a second copy in the cell becomes altered, then that develops into cancer. And so these patients are at increased risk of developing cancers. Specifically, they are at an increased risk of developing ovarian cancer, breast cancer, prostate cancer, pancreatic cancer, and a few others. These cancers are considered BRCA-associated tumors. Alternatively, some patients, more rarely, can develop BRCA-altered cancers completely sporadically. So it's a mutation that happens in the tumor itself, and that can lead to impaired DNA repair and promote cancer progression. And those patients are not, they don't have any inherited risk, but just a random event caused a BRCA mutation in the tumor. The reason this is important is because, in addition to it being potentially important for family members, there are certain treatments that are more effective in BRCA-altered cancers. And the main example is PARP inhibitors, which are small molecule inhibitors that inhibit the PARP enzyme, and there is what we call synthetic lethality. So PARP is important for DNA repair, for single-stranded DNA repair, BRCA is important for double-stranded DNA repair, and in a patient that has a cancer that has a BRCA mutation, that cancer becomes more reliant on single-stranded DNA repair. And if you inhibit it with a PARP inhibitor, the cancer cells are unable to repair DNA, and the cells die. So we call that synthetic lethality. PARP inhibitors are FDA approved in several diseases, predominantly the BRCA-associated diseases I mentioned: breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer. Dr. Rafeh Naqash: That was very beautifully explained. Honestly, I've heard many people explain BRCA before, but you kind of put it in a very simple, easy to understand format. You mentioned this earlier describing germline or hereditary BRCA and somatic BRCA. And from what I gather, you had a predominant population of somatic BRCA, but a couple of germline BRCA as well in your patient population, which we'll go into details as we understand the study. You mentioned the second hit on the germline BRCA that is required for the other copy of the gene to be altered. In your clinical experience, have you seen outside of the study that you published, a difference in the sensitivity of PARP for germline BRCA versus a somatic BRCA that has loss of both alleles? Dr. Alison Schram: So we will get into what's unique about uterine sarcomas in just a minute. In uterine sarcomas, what we have found is that the BRCA mutations tend to be somatic and not germline, as you mentioned. That is in contrast to the other diseases we mentioned, where the vast majority of these tumors are in patients that have germline BRCA alterations. So one thing that's really unique about the uterine sarcoma population and our paper, I believe, is that it is demonstrating an indication for PARP inhibitors in a population that is not characterized by germline BRCA alterations, but truly these by somatic BRCA alterations. If you look at the diseases that PARP inhibitors are validated to be effective in, including the, you know, the ones I mentioned, the BRCA-associated tumors, there's some data in specific context that suggests that perhaps germline alterations are more sensitive to PARP inhibitors, but that's not universal, and it's really tricky to do because the genetic testing that we have doesn't always tell you if you have two hits or just one hit. So you need more complex genetic analysis to truly understand if there is what we call a biallelic loss. And sometimes it's not a second mutation in BRCA. Sometimes it's silencing of the gene by hypermethylation or epigenetics. Some of our clinical trials are now incorporating this data collection to really understand if biallelic loss that we can identify on more complex genetic testing predicts for better outcomes. And we think it's probably true that the patients that have biallelic loss, whether it be germline or somatic biallelic loss, are more likely to benefit from these treatments. That still needs to be tested in a larger cohort of patients prospectively. Dr. Rafeh Naqash: In your clinical experience, I know you predominantly use MSK-IMPACT, but maybe you've perhaps used some other NGS platforms, next-generation sequencing platforms. Have you noticed that these reports for BRCA alterations the report mentioning biallelic loss in certain cases? I personally don't- I do lung cancer, I do early-phase lung cancer as well, but I personally don't actually remember if I've seen a report that actually says biallelic loss. So after this podcast, I'm going to check some of those NGS reports and make sure I look at it. But have you seen it, or what would be a learning point for the listeners there? Dr. Alison Schram: Exactly. And they usually do not. They usually do not explicitly say, “This looks like biallelic loss,” on the reports. The exception would be if there's a deep deletion, then that implies both copies of the gene have been deleted, and so then you can assume that it's a biallelic loss. But oftentimes, when you see a frameshift alteration or a mutation, you don't know whether or not it's a biallelic loss. And you may be able to get some clues based on the variant allele frequencies, but due to things like whole genome duplication or more complex tumor genomics, it's not clear from these reports, and you really do need a more in-depth bioinformatic analysis to understand whether these are biallelic or not. So that is why I suggest that this really needs to be done in the context of a clinical trial, but there is definitely a theoretical rationale for reporting and treating patients with biallelic losses perhaps more so than someone who has a variant of unknown significance that seems to be monoallelic. The other tricky part, as I mentioned, is the fact that there could be epigenetic changes that silence the second copy, so that wouldn't be necessarily evident on a DNA report, and you would need more complex molecular testing to understand that as well. Dr. Rafeh Naqash: Sure. Now, going to your study, could you tell us what prompted the study, what was the patient population that you collected, and how did you go about this research study design? Dr. Alison Schram: It's actually a great story. I was the principal investigator for a clinical trial enrolling patients regardless of their tumor type to a combination of a PARP inhibitor and immunotherapy. And this was a large clinical trial that was being done as a basket study, as I mentioned, for patients that have either germline or somatic alterations with advanced solid tumors that had progressed on standard therapy. And the hypothesis was that the combination of a PARP inhibitor and immunotherapy would be synergistic and that there would be increased efficacy compared to either agent alone and that patients who had BRCA alterations were a sensitive population to test because of their inherent sensitivity to PARP inhibitors and perhaps their increased neoantigen burden from having loss of DNA repair. So this large study, it's been published, really did show that there was efficacy across several tumor types, but it didn't seem to clearly demonstrate synergy between the immunotherapy and the PARP inhibitor as compared to what you might expect from a PARP inhibitor alone, and in addition to a couple of cases, perhaps attributable to the immunotherapy. So maybe additive rather than synergistic efficacy. However, what really struck me looking at the data was that there were three patients with uterine leiomyosarcoma with BRCA deletions who had the best responses of anyone on the study. So incredible, durable responses. One of my patients with a complete response that continues to not have any evidence of cancer eight years after the initiation of this regimen. And for those of us that treat uterine leiomyosarcoma, this is unheard of. These patients generally, as I mentioned, respond, if they do respond to chemotherapy, it's generally short-lived and the cancer progresses. And so a complete response nearly a decade later turns heads in this field. The other interesting thing was that these uterine leiomyosarcoma patients had somatic alterations rather than a germline alteration with a second hit, and the diseases that are best validated for being responsive to PARP inhibitors include the BRCA-associated diseases, the ones that you're at increased risk for if you have a germline BRCA mutation, including breast, pancreas, prostate, and ovarian. And so it was very interesting that this disease type that seemed to be uniquely sensitive to PARP inhibitors with immunotherapy was also different in that patients with uterine leiomyosarcoma don't tend to have a high frequency of BRCA alterations, and in patients that are born with a BRCA alteration, there doesn't seem to be a clearly increased risk of uterine sarcomas. So this population really jumped out as a uniquely sensitive population that differed from the prior indications for PARP inhibitors. Given this patient and these couple of patients that we observed on the combination, in addition to some other case reports and case series that had started to come out in small numbers, we wanted to look back at our large cohort of patients at Memorial Sloan Kettering to see if we could really get a better sense of the numbers. How many patients at Sloan Kettering with uterine sarcomas have BRCA alterations? Are they generally somatic or germline? Are there unique features about these patients in terms of their clinical characteristics? How many of them have received PARP inhibitors, and if so, is this just luck that these three patients did so well, or is this really a good treatment option for patients with BRCA-altered uterine sarcomas? And so we did this retrospective analysis identifying the patients at Sloan Kettering who met these criteria. So in total, we found 35 patients with uterine sarcomas harboring BRCA alterations, and the majority were leiomyosarcoma, about 86% of them had leiomyosarcoma, which is interesting because there are other uterine sarcomas, but it does seem like BRCA alterations tend to be more often in the leiomyosarcomas. And 13 of these patients with uterine leiomyosarcoma were treated with PARP inhibitors in the recurrent or metastatic setting with about half of those patients having an overall response, so that's a significant tumor shrinkage that sustained, and a clinical benefit rate of 62%. And if we look at the patients that had these BRCA2 deep deletions, which was the patient I had that had this amazing response, the overall response rate jumped to 60% and the clinical benefit rate to 80%. And we defined clinical benefit rate as having maintained on the PARP inhibitor without evidence of progression at six months. So this is really impressive for patients with a difficult to treat disease. And we couldn't do a randomized controlled trial comparing it to chemotherapy, but looking retrospectively at outcomes on chemotherapy studies, this was very favorable, particularly because many of these patients were heavily pretreated. So to get a sense of, you know, how this might compare to chemotherapy, we tried to use patients as their own internal controls, and we looked at how long patients were maintained on the PARP inhibitor as compared to how long they were on the treatment just prior. And we used a ratio of 1.3 to say if they were on the PARP inhibitor for 1.3 times what their previous treatment was or longer, that is pretty clearly better, more of a benefit from that regimen. And the majority of patients did meet that bar. So 58% had a PFS ratio greater than 1.3, and the average PFS ratio was 1.9, suggesting, you know, you would expect the the later lines of therapy to actually not work as well, but this suggests that it's actually working better than the immediately prior line of therapy, to me, suggesting that this is truly a good treatment option for these patients. Dr. Rafeh Naqash: Very interesting. And you mentioned that individuals with tumors having deep deletions were probably more responsive. How did you figure out that there was biallelic loss or deep deletions? Was that part of an extended analysis that was done subsequently? Dr. Alison Schram: So the deletions reported on our report, if it's a biallelic deletion, that is the one biallelic molecular alteration that would be reported. So those are, by definition, biallelic, and I think that that may be one of the reasons that's a good biomarker. But also, what's interesting is that if you have both copies deleted of BRCA, you can't develop reversion mutations. So one of the the known mechanisms of resistance to PARP inhibitors in patients who have BRCA alterations are something called a reversion mutation where, if you have a frameshift alteration, for example, in BRCA that makes BRCA protein nonfunctional, you can develop a second mutation that actually puts the DNA back in frame, and a functional protein is now made. And so a mechanism of resistance to PARP inhibitors is actually reverting BRCA to a wild-type protein, and then BRCA's synthetic lethality no longer makes sense and is no longer effective. But if you've deleted both copies of BRCA, you don't have the ability to restore the function, and you can't develop reversion mutations. And that's perhaps why, you know, my patient and others have had these prolonged responses to PARP inhibitors because you don't have the same ability to develop that mechanism of resistance. Dr. Rafeh Naqash: I remember thinking a year and a half back, I had an individual with prostate cancer and with BRCA2, and using liquid biopsy, I had a reversion mutation that we caught. In your practice, have you seen the utility of doing the serial liquid biopsies in these individuals to catch these reversion mutations? Dr. Alison Schram: Yes, absolutely. And in patients that have the ability to develop a reversion mutation, serial cell-free DNA can catch it, but the caveat is that it doesn't always. So if you see an acquired reversion mutation in cell-free DNA, that can be helpful, particularly if you're planning on putting the patient on another line of therapy that might require a dysfunctional BRCA. So if you're putting them on a clinical trial with a PARP combination and the rationale is that they're sensitive because they don't have a functional BRCA, you would want to know if they developed a reversion mutation, and serial cell-free DNA can definitely identify these reversion mutations. Some of the major clinical trials in ovarian cancer have done serial cell-free DNA and have demonstrated the utility of that approach. The caveat is that some of these reversion mutations are not readily caught on cell-free DNA because they're more complex reversion mutations, or they're not, the part of the gene that develops the reversion mutation is not tiled on the panel. And so it doesn't always catch the reversion mutations. Also, depends on the cell-free DNA shedding, depends on the tumor volume and other factors. And we published a related paper of a patient, it was a really interesting case of a patient with prostate cancer who was on a PARP inhibitor and developed what appeared to be a single reversion mutation on one sample, had negative cell-free DNA, single reversion mutation in a tissue biopsy, and then developed disease progression. And we did an autopsy, and the patient kindly consented to an autopsy, and at the time of autopsy, there were 10 unique reversion mutations identified across 11 metastases. So almost each metastasis had a unique reversion mutation, and only one of them had been seen premortem on a tissue biopsy and not on a cell-free DNA. But that autopsy really drove home to me how much we're missing by doing clinical testing in real time and we really don't know the entire genomic complexity of our patients by doing single samples. And theoretically, cell-free DNA can catch DNA from all the metastases, so you might think that that would be a solution, and it definitely can catch reversion mutations that are not seen in a single biopsy, but you really need to do it all. I mean, you need to do the tissue biopsy sampling, you need to do cell-free DNA, and probably one cell-free DNA test is not enough. Dr. Rafeh Naqash: Thank you, again, for that very nice explanation. Now, one quick provocative question. I remember when I was training, the lab that I used to work in, they used to do a lot of phosphorylation markers for DNA damage response, like phospho NBS, RAD51. Have you seen anything of that sort on these biallelic BRCA mutations where tumors are responding, but they also have a very high signature on the phosphorylation side, and it may or may not necessarily correspond to HRD signatures, but have you noticed or done any of that analysis? Dr. Alison Schram: I think that it would be great to do that analysis. And some of the work we're doing now is actually trying to dig a little bit deeper in our cohort of patients to understand are these HRD-positive tumors? Does HRD positivity correlate with response to BRCA alterations? In terms of the functional assays, I would love to be able to do a functional assay in these samples. One of the challenges is that this was a retrospective study and many of the patients were previously treated as standard of care or off-label with these agents, and so we didn't have prospective tissue collection, and so we're really limited by the tissue that was collected as part of standard of care and the consent forms that the patient signed that allow us to do genomic and molecular testing on their samples. So, I think that is hopefully future work that we will do and others will do. Dr. Rafeh Naqash: Sure. Shifting gears to your career trajectory, I'd like to spend a couple of minutes there before we end the podcast. So Dr. Schram, you've obviously been a trailblazer in this space of drug development, early-phase trials. Can you give us a brief synopsis of your journey and how you've successfully done what you're doing and what are some of the things that drive you? Dr. Alison Schram: Well, thank you for saying that. I don't know if that's true, but I'll take the bait. I've been interested in oncology since college and was always very interested in not only the science of oncology but of course, treating patients. And in medical school, I did basic science research in a laboratory and it was very inspiring and made me want to do research in oncology in addition to clinical care. When I became an oncology fellow, I was presented with a very difficult question, which is, “Do you want to be a lab PI and be in the lab, or do you want to do clinical care and clinical research?” And I couldn't choose. I found a mentor who thankfully really had this amazing vision of combining the two and doing very early drug development, taking the data that was being generated by labs and translating it into patients at the earliest stage. So, you know, phase one drug development in molecularly targeted therapies. And so I became very interested as a fellow in early drug development and this ability to translate brand new molecular insights into novel drugs. And I joined the- at Sloan Kettering, there was the Early Drug Development, it was actually a clinic, it was called something different, and it was very fortuitous. My last year of fellowship, the clinic became its own service with the ability to hire staff at Sloan Kettering, and I was the first ever hire to our Early Drug Development Service. And that really inspired me to try and bring these drugs to patients and to really translate the amazing molecular insights that my colleagues here at Sloan Kettering are discovering, and you know, of course, at other institutions and in pharma. And you know, there 's been an amazing revolution in in drug development over the last several years, and I feel very grateful that I've been here for it. You know, I've been able to take the brilliant insights from my colleagues and put these drugs in patients, and I have the amazing privilege of watching patients in many cases that benefit from these treatments. And so I do mostly phase one drug development and molecularly targeted therapies, and truthfully, I am just very fortunate to be around such brilliant people and to have both patients and labs trust me to be able to deliver these new drugs to patients and hopefully develop better drugs that move forward through FDA approval and reach patients across the country. Dr. Rafeh Naqash: Thank you so much. That was very nicely put. And hopefully our trainees and junior faculty find that useful based on their own career trajectories. Thank you, Dr. Schram, for joining us today. Hopefully, we'll see more of your subsequent work in JCO PO. Thank you for giving us all these insights today. Dr. Alison Schram: Thank you for having me. Dr. Rafeh Naqash: Thank you for listening to JCO Precision Oncology Conversations. 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. Dr. Alison Schram Disclosures Consulting or Advisory Role Company: Mersana, Merus NV, Relay Therapeutics, Schrodinger, PMV Pharma ,Blueprint Medicines, Flagship Pioneering, Redona Therapeutics, Repare Therapeutics, Endeavor BioMedicines Research Funding Company: Recipient: Your Institution  Merus, Kura, Surface Oncology, AstraZeneca, Lilly, Pfizer , Black Diamond Therapeutics, BeiGene, Relay Therapeutics, Revolution Medicines,  Repare Therapeutics, PMV Pharma, Elevation Oncology, Boehringer Ingelheim Travel, Accommodations, Expenses Company: PMV Pharma 

In this compelling episode, host Melissa Berry continues the series "Decoding Destiny: Navigating Breast Cancer with Genetic Insight" with a heartfelt conversation with Krista Brown, also known on Instagram as the Cancer Prevention Coach. Krista, an oncology nurse navigator and breast cancer survivor, shares her journey of living with an ATM gene mutation and the empowering role of genetic testing in her life. Together, they explore the importance of education, nutrition, and self-advocacy in managing hereditary cancer risks. Tune in to discover how Krista's personal experiences have shaped her mission to fill gaps in patient education and support others on their cancer prevention journeys. Special thanks to AstraZeneca for making this episode possible.

Podcast Alert!

In this raw and real conversation, we sit down with a therapist and mom of three who opens up about what it was like to fall apart just when everything looked “fine.” She shares the unexpected crash of antenatal depression during her third pregnancy, the challenge of diagnosing herself when she's supposed to be the expert, and how she finally got the help she needed. We talk about receiving a BRCA+ diagnosis after her mother's cancer, deciding to undergo a preventive mastectomy (with a hysterectomy still to come), and grieving the loss of future fertility.  Julia also reflects on how her view of G-d has shifted from religious anxiety and bargaining to a more grounded kind of faith, and why posting honestly on social media became her lifeline. If you've ever felt pressure to “hold it together,” questioned your faith, or wondered how anyone survives the chaos of being human—this episode is for you.   Topics include: - What antenatal depression can actually look like (even when you're a therapist) - Getting a BRCA+ diagnosis and making hard decisions - Letting go of the fantasy of more children - Religious anxiety, fear, and finding balance - How humor and public storytelling became part of her healing - Control, or lack thereof—and learning to live with it Mentions: Sharsheret and Chai Lifeline More about Julia Makowsky:  Grew up in Los Angeles moved to New York for school where I was set up with my husband. I have a masters degree in social work and have been working in the field for over 13 years. I am a mom of 4 children and reside in the five towns. Recently I was diagnosed with BRCA1 where I have been navigating what is the best course of action for myself and my family. Connect with Julia:  - Follow her on Instagram   Connect with us: -Check out our Website -Follow us on Instagram and send us a message -Watch our TikToks -Follow us on Facebook -Watch us on YouTube -Connect with us on LinkedIn  

This episode discusses the Food and Drug Administration and National Institutes of Health Biomarker Working Group updates to the original 2018 BEST Resource in 2021, including the understanding and classification of biomarkers like BRCA1 and BRCA 2. This presentation highlights how these changes affect cancer risk diagnostics and provides a resource for evidence-based application of specific genetic testing in the pharmacist's clinical practice. CE for this episode expires two years after its original publication date.  The information presented during the podcast reflects solely the opinions of the presenter. The information and materials are not, and are not intended as, a comprehensive source of drug information on this topic. The contents of the podcast have not been reviewed by ASHP, and should neither be interpreted as the official policies of ASHP, nor an endorsement of any product(s), nor should they be considered as a substitute for the professional judgment of the pharmacist or physician.

Today we have Jade on the podcast! She is a passionate advocate for genetic awareness and preventative healthcare. In December 2023, she learned she carries the BRCA genetic mutation, a discovery that profoundly impacted her life and sparked a journey of emotional processing, decision-making, and self-advocacy.Today we discuss:How she found out about the BRCA genetic mutationHer options and preventative surgeryMastectomy surgeryResources that helped herConnect with Jade on Instagram here PEARL & PETAL CO. SHOP HERE ⁠& ⁠Instagram here⁠My ⁠⁠⁠⁠⁠⁠self-discovery & manifestation journal here⁠⁠⁠⁠⁠⁠My Self-Love Gratitude Journal on ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Amazon here⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Shop my ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠adult sexual products here⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Join my free ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook group here⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠MERCH HERE⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Connect with me on ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ & ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ and ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ please follow/like/subscribe/rate. Thank you for listening to this podcast! ENJOY!

In the heart of the Valley, a community is rallying together to build a sanctuary where families can say their goodbyes in a peaceful, home-like setting. Katie's Comfort House is a tribute to Katie Teets, a vibrant neurotrauma intensive care nurse whose life was tragically cut short by breast cancer at the age of 26. Her family's mission is to create a place that bridges the gap between hospital care and the comfort of home, allowing families to be with their loved ones in their final days. In this episode of The Valley Today, host Janet Michael welcomes Julie Teets, Katie's mother, and Brandon Teets, Katie's brother. Also joining them is Micah Howard & the Southern Ghost. The conversation revolves around an upcoming country music festival designed to benefit Katie's Comfort House. Julie opens up about Katie's life—a soccer player, neurotrauma intensive care nurse, and fighter who was diagnosed with triple-negative BRCA breast cancer. Katie's journey through treatments, relapses, and her eventual passing in the comfort care room of Winchester Medical Center paints a vivid picture of resilience and family unity. "Katie was treated very well at the hospital, but there were limitations. We want to help others walk away from this tragic time with more comfort," Julie explains. Thus, Katie's Comfort House was born—a place with all the amenities of a medical facility but the feel of home. The facility aims to offer a nurturing environment complete with individual rooms that open to the outdoors, communal spaces for families, and the necessary medical equipment to support end-of-life care. The goal is to make saying goodbye a little easier for everyone involved. Fundraising efforts have been robust, with the community responding warmly. Brandon recounts how Katie's house idea came to life less than a month after her passing. Their board, composed of close friends and family, got quickly to work. Concerts, car shows, and other community events are integral to their fundraising efforts. The upcoming country music festival on July 25th at The Monument in North Loudoun Street is a significant milestone in their journey. Micah Howard, an integral part of the concert, shares his admiration for the Teets family. He never knew Katie but feels a strong connection through her family and their cause. "Katie's spirit has made something remarkable; it's built this really tight community," Micah says. His blend of southern rock and grunge adds a unique flavor to the event, promising an entertaining night for all attendees. Julie shares an unforgettable story showing Katie's lively personality. "Katie couldn't dance; it was so awkward and uncomfortable to watch her," she laughs, recounting a night where Katie took out a ceiling fan at Piccadilly Brew Pub. Serendipitously, the contractor they hired for home renovations turned out to be the bouncer who helped Katie back up. Such coincidences have strengthened the family's belief that Katie is still with them, guiding their efforts. While the community fundraises to bring Katie's Comfort House to life, Julie and Brandon continue their professional lives. Julie is a real estate agent, and Brandon is a home inspector. "Our foot's on the gas pedal, and we're not letting off," Julie asserts, sharing hopes for significant announcements in the coming months. The journey hasn't been easy, but the Teets family is driven by Katie's spirit and the community's overwhelming support. Katie's Comfort House is not just about providing a facility; it's about creating a lasting legacy for a woman who touched many lives. You can support Katie's Comfort House by attending their events, spreading the word, or visiting their Facebook page and website. As Brandon says, "We're setting ourselves up for the future. Katie's Comfort House will last a lifetime and be for everyone."

218: In this episode, I'm covering one of the most requested and controversial topics in women's health—whether breast cancer survivors can safely use hormone replacement therapy (HRT). To help answer this complex question, I'm joined by Dr. Corinne Menn, a board-certified OB-GYN, Menopause Society certified practitioner, and Fellow of the American College of Obstetrics and Gynecology. Dr. Menn brings a powerful blend of clinical expertise and lived experience. She's a 23-year breast cancer survivor, BRCA gene carrier, and went through premature menopause herself. We cover what the research really says about HRT after breast cancer, risks versus benefits, the reality of estrogen deprivation, and why “it depends” is the only honest answer. Topics Discussed: → Can breast cancer survivors safely use HRT? → Is hormone therapy after breast cancer risky? → What are the benefits of estrogen for cancer survivors? → Does HRT increase breast cancer recurrence? → Are there safe hormone options for BRCA carriers? Sponsored By: → Timeline | Head to timeline.com/DRTYNA and get 20% off with code DRTYNA  → Nutrisense | Head over to nutrisense.io/drtyna to get 30% off your Nutrisense plan. Code TYNA at checkout → LVLUP | Head over to LVLUPHealth.com and use code DRTYNA at checkout to get 20% off your order sitewide.  → Manukora | Head to manukora.com/DRTYNA to save up to 31% & $25 worth of free gifts in Starter Kit, which comes with an MGO 850+ Manuka Honey jar. → BIOptimizers | Go to bioptimizers.com/tyna and use promo code TYNA10 to order Masszymes now and get 10% off any order → Dr Tyna's Brain spark | Go to store.drtyna.com/products/brainspark and use code BRAINSPARK10 for 10%  On This Episode We Cover:  → 00:00:00 - Introduction  → 00:04:51 - Dr. Menn's cancer story → 00:07:09 - Estrogen loss effects → 00:11:45 - Surgical menopause → 00:15:05 - Estrogen and cancer risk → 00:25:32 - Pregnancy after cancer → 00:31:40 - Estrogen in midlife → 00:34:45 - HRT after breast cancer → 00:37:56 - Recurrence risk → 00:44:06 - Dangers of low estrogen → 00:50:34 - New HRT options → 00:58:05 - Sexual health & dryness → 01:04:02 - You don't need to suffer → 01:08:16 - Estrogen and surgery → 01:13:04 - Estrogen for tissue health Show Links: → Estrogen Matters (book) Further Listening:  → EP. 199 | Hot Flashes Are a Warning Sign: The Truth About Metabolic Dysfunction | Quick + Dirty → Hormones Playlist Check Out Dr. Menn: → Instagram  → Website  → More Dr. Menn Disclaimer: Information provided in this podcast is for informational purposes only. This information is NOT intended as a substitute for the advice provided by your physician or other healthcare professional, or any information contained on or in any product. Do not use the information provided in this podcast for diagnosing or treating a health problem or disease, or prescribing medication or other treatment. Always speak with your physician or other healthcare professional before taking any medication or nutritional, herbal or other supplement, or using any treatment for a health problem. Information provided in this blog/podcast and the use of any products or services related to this podcast by you does not create a doctor-patient relationship between you and Dr. Tyna Moore. Information and statements regarding dietary supplements have not been evaluated by the Food and Drug Administration and are not intended to diagnose, treat, cure, or prevent ANY disease.

President Trump agrees $142bn arms deal with Saudi Arabia during a trip to the Gulf. Also: new hope for patients with breast cancer BRCA gene, and Basel hosts first Eurovision semi-final.

View the Show Notes Page for This Episode Become a Member to Receive Exclusive Content Sign Up to Receive Peter's Weekly Newsletter Rachel Rubin is a board-certified urologist and one of the nation's foremost experts in sexual health. In this episode, she shares her deep expertise on the often-overlooked topic of women's sexual health, exploring why this area remains so neglected in traditional medicine and highlighting the critical differences in how men and women experience hormonal decline with age. Rachel explains the physiology of the menstrual cycle, the complex hormonal shifts of perimenopause, and the wide-reaching health risks associated with menopause, including osteoporosis, cardiovascular disease, dementia, and recurrent urinary tract infections. She also breaks down the controversy surrounding hormone replacement therapy (HRT), particularly the damaging legacy of the Women's Health Initiative study, and provides guidance on the safe and personalized use of estrogen, progesterone, and testosterone in women. With particular emphasis on local vaginal hormone therapy—a safe, effective, and underused treatment—Rachel offers insights that have the potential to transform quality of life for countless women. We discuss: Rachel's training in urology and passion for sexual medicine and women's health [3:00]; Hormonal changes during ovulation, perimenopause, and menopause: why they occur and how they impact women's health and quality of life [5:30]; Why women have such varied responses to the sharp drop in progesterone during the luteal phase and after menopause, and the differing responses to progesterone supplementation [14:45]; The physical and cognitive health risks for postmenopausal women who are not on hormone therapy [17:45]; The history of hormone replacement therapy (HRT), and how misinterpretation of the Women's Health Initiative study led to abandonment of HRT [20:15]; The medical system's failure to train doctors in hormone therapy after the WHI study and its lasting impact on menopause care [29:30]; The underappreciated role of testosterone in women's sexual health, and the systemic and regulatory barriers preventing its broader use in female healthcare [35:00]; The bias against HRT—how institutional resistance is preventing meaningful progress in women's health [46:30]; How the medical system's neglect of menopause care has opened the door for unregulated and potentially harmful hormone clinics to take advantage of underserved women [53:30]; The HRT playbook for women part 1: progesterone [57:15]; The HRT playbook for women part 2: estradiol [1:05:00]; Oral formulated estrogen for systemic administration: risks and benefits [1:13:15]; Topical and vaginal estrogen delivery options: benefits and limitations, and how to personalize treatment for each patient [1:17:15]; How to navigate hormone lab testing without getting misled [1:24:15]; The wide-ranging symptoms of menopause—joint pain, brain fog, mood issues, and more [1:31:45]; The evolution of medical terminology and the underrecognized importance of local estrogen therapy for urinary and vaginal health in menopausal women [1:37:45]; The benefits of vaginal estrogen (or DHEA) for preventing UTIs, improving sexual health, and more [1:41:00]; The use of DHEA and testosterone in treating hormone-sensitive genital tissues, and an explanation of what often causes women pain [1:50:15]; Is it too late to start HRT after menopause? [1:56:15]; Should women stop hormone therapy after 10 years? [1:58:15]; How to manage hormone therapy in women with BRCA mutations, DCIS (ductal carcinoma in situ), or a history of breast cancer [2:00:00]; How women can identify good menopause care providers and avoid harmful hormone therapy practices, and why menopause medicine is critical for both women and men [2:06:00]; and More. Connect With Peter on Twitter, Instagram, Facebook and YouTube