Podcasts about hnpcc

Pauline Gross was a seamstress in 1895 who had seen family members die at an early age from cancer. At the time, one of her clients was a pathologist by the name of Dr Aldred Scott Warthin and confided in him her fear that that this would be her fate too. The two combined to record the most comprehensive family history ever created. Dr Warthin called them ‘Family G’. In the 1960s, Dr Henry T Lynch who revived the search for the members of Family G. Through family gatherings and meetings, he managed to track down over 650 family members, of which, 95 had a history of cancer. He noted that they had an Autosomal Dominant disorder that increased their incidence of uterine and gastrointestinal cancers. Dr Lynch called it a ‘Cancer Family Syndrome’. Today, it is known as Lynch syndrome. Our special guests include: Ami McKay: an award winning novelist who has written ‘Daughter of Family G/Before my time: a memoir of love & fate’. Ami has also produced the radio documentary ‘Daughter of Family G’ available at amimckay.com Dr Tristan Rutland: Anatomical pathologists at Liverpool hospital and based at Western Sydney University with a PhD in colorectcal cancer. Dr Rutland was the recipient of the Konrad Muller RCPA Outstanding Teaching Award Professor Graeme Suthers: National Director of Genetics for Sonic Pathology Australia who trained in clinical and laboratory genetics in Sydney, Adelaide, and Oxford. This is the story of Lynch syndrome.Support the show: https://theadelaideshow.com.au/listen-or-download-the-podcast/adelaide-in-crowd/See omnystudio.com/listener for privacy information.

Our guest on today's show is Dan Dry Dock Shockley, a retired Navy, Operation Desert Storm; Enduring and Iraqi Freedom veteran and 10 year hereditary colon cancer WARRIOR.  One of the risk factors for colorectal cancer is a family history of the disease. Colorectal cancer is called "hereditary" or "inherited" when several generations of a family have it. Experts have found gene changes (also known as mutations or abnormalities) that cause colorectal cancer. A gene is a block of DNA that holds the genetic code, or instructions, for making proteins vital to our bodily functions. The children of people who carry these genes have a 50% chance of getting them from their parents. The two most common inherited colorectal cancer syndromes are hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). These two account for less than 5% of all colorectal cancers. Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) HNPCC, also known as Lynch syndrome, is the most common form of hereditary colon cancer, accounting for about 3% of all colorectal cancer diagnoses each year. People with HNPCC often have at least three family members and two generations with colorectal cancer, and cancer develops before age 50. lthough not everyone who inherits the HNPCC gene will get colorectal cancer, the risk is very high: about 80%. People with HNPCC also have a higher risk of other Lynch syndrome-related cancers, including brain, kidney, ovarian, uterine, bladder, pancreatic, small intestine, and stomach cancers. Doctors can check the pattern of colorectal cancer in relatives in order to find out if the family has HNPCC. "HNPCC families" must show certain signs of a pattern of colon cancer across generations. These are called the Amsterdam Criteria and include: At least three members with a Lynch syndrome-related cancer At least two successive generations with this type of cancer Two family members with the disease are first-degree relatives (i.e. parents, brothers, sisters, or children) of another family member with a Lynch syndrome cancer At least one member affected at or before age 50 FAP is excluded from the family member's diagnosis Check with your doctor if you think this applies to your family. Colonoscopies are recommended in family members who are 10 years younger than the youngest family member who was diagnosed with cancer. You should also be screened for other Lynch syndrome-related cancers. For people with a diagnosis of Lynch syndrome, screening usually starts between ages 20 and 25. Familial Adenomatous Polyposis (FAP) Syndrome Familial adenomatous polyposis (FAP) is a rare condition marked by the presence of hundreds or thousands of benign polyps, noncancerous growths in the large intestine and upper respiratory tract. It's thought to happen in about 1% of all people diagnosed with colorectal cancer each year. The polyps start early, with 95% of people with FAP getting them by age 35, and are often found in patients in their teens, with 50% having polyps by age 15. Without colon removal, there is almost a 100% chance that some of the polyps will become cancer, usually by age 40. Thyroid cancer is also linked with FAP. Although most cases of FAP are inherited, nearly a third are the result of a spontaneous (newly occurring) gene change. For people who develop a new gene mutation, they might pass the FAP gene on to their children. What Is the FAP Gene? Genes are tiny segments of DNA that control how cells function, such as telling them when to divide and grow. One copy of each gene comes from your mother; the other comes from your father. In 1991, researchers identified the gene called APC that is responsible for the condition. It can be found in 82% of patients with FAP. The lifetime risk of colon cancer in people who have this gene change is close to 100%. What's the Difference Between FAP and HNPCC? The two main differences between FAP and HNPCC are: Number of genes involved. In FAP, only one gene, APC, has a mutation. In HNPCC, several gene changes may be responsible for the condition. Presence of polyps. FAP is marked by the presence of more than 100 benign polyps. People with HNPCC have fewer polyps, but they can become cancerous more quickly than normal. Other Forms of Inherited Polyposis Syndromes Other very rare forms of inherited polyposis syndromes are linked with a higher risk of colorectal cancer. These include: Juvenile polyposis (JP). You may have five to 500 polyps, mostly in the colon and rectum. They usually happen before the age of 10. The stomach and small intestine may also be affected. People who have JP are also more likely to get bowel cancer. Peutz-Jeghers syndrome (PJS). People with PJS typically have dozens to thousands of benign polyps in the stomach and intestines, mostly in the small intestine. The growths can become malignant or can cause a blockage of the bowel. Ashkenazi Jews and Colorectal Cancer Jewish people who are Ashkenazi, or of Eastern European descent, are at increased risk for colorectal cancer. This is thought to be due to a variant of the APC gene that is found in 6% of this population. Ashkenazi Jews make up the majority of the Jewish population in the U.S. If you suspect that you are at risk for Jewish people who are Ashkenazi, or of Eastern European descent, are at a higher risk for colorectal cancer. This is thought to be due to a variant of the APC gene that is found in 6% of this population. Ashkenazi Jews make up the majority of the Jewish population in the U.S. inherited form of colorectal cancer, talk to your doctor. There may be a genetic test that can be performed to confirm your suspicions. Gene Tests for Colorectal Cancer Blood tests can find the gene changes that make some people more likely to get FAP or HNPCC. You might want to consider genetic counseling and testing if: You've had more than 10 colon polyps You've had colon polyps and other types of tumors You're of Ashkenazi Jewish descent and your family has a history of colon cancer or polyps If you test positive for these gene changes, your doctor will probably recommend that you get a colonoscopy every year. This is a test that checks your colon for cancer or polyps. If you've already had colon cancer or polyps, your doctor may talk to you about a colectomy, which is surgery to remove your colon. Your relatives might want to consider genetic counseling and testing, too.  (credits WEBMD)  

Be prepared for some knowledge in this episode exploring the different genetic syndromes associated with colorectal cancer. Great episode to cram before the exam!We will cover:Polyposis syndromes: - FAP (Familial Adenomatous Polyposis)- MAP (MUTYH-Associated Polyposis)- Peutz-Jegher's syndrome- Familial juvenile polyposis- Serrated polyposis- PTEN tumour syndromesNon-polyposis syndromes- HNPCC and Lynch SyndromeDisclaimerThe information in this podcast is intended as a revision aid for the purposes of the General Surgery Fellowship Exam.This information is not to be considered to include any recommendations or medical advice by the author or publisher or any other person. The listener should conduct and rely upon their own independent analysis of the information in this document.The author provides no guarantees or assurances in relation to any connection between the content of this podcast and the general surgical fellowship exam.  No responsibility or liability is accepted by the author in relation to the performance of any person in the exam.  This podcast is not a substitute for candidates undertaking their own preparations for the exam.To the maximum extent permitted by law, no responsibility or liability is accepted by the author or publisher or any other person as to the adequacy, accuracy, correctness, completeness or reasonableness of this information, including any statements or information provided by third parties and reproduced or referred to in this document. To the maximum extent permitted by law, no responsibility for any errors in or omissions from this document, whether arising out of negligence or otherwise, is accepted.The information contained in this podcast has not been independently verified.© Amanda Nikolic 2021

Recently, I was on Dave Dubin’s podcast, “Alive and Kickn” and we talked about Lynch Syndrome.  Often called hereditary nonpolyposis colorectal cancer (HNPCC), Lynch Syndrome is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon. Dave lives with the condition, and we talked about how Lynch also increases the risk of ovarian cancer and endometrial cancer for women who have HNPCC. Dave very generously let me share the interview on The Egg Whisperer Show podcast, and you can tune in to learn more about Lynch, and it’s impact on fertility. Learn more about Lynch Syndrome at Dave's Alive And Kickin' podcast. Subscribe to my YouTube channel for more fertility tips! Join Egg Whisperer School Checkout the podcast Subscribe to the newsletter to get updates Dr. Aimee Eyvazzadeh is one of America’s most well known fertility doctors. Her success rate at baby-making is what gives future parents hope when all hope is lost. She pioneered the TUSHY Method and BALLS Method to decrease your time to pregnancy. Learn more about the TUSHY Method and find a wealth of fertility resources at www.draimee.org.

March is colorectal cancer awareness day and March 22nd is Lynch Syndrome awareness day! Hereditary nonpolyposis colorectal cancer (HNPCC), more commonly known as Lynch syndrome, is an inherited condition that greatly increases the risk of many cancers, most notably colorectal cancer. This condition also increases the risk for other cancers such as endometrial, ovarian, and gastric cancer. Cancers that have a less severe risk increase include hepatobiliary tract, urinary tract, small bowel, pancreatic, brain/central nervous system, and sebaceous neoplasms. Not all people with Lynch syndrome have the same elevated risks. Risk levels depend on which gene(s) have mutations. Lynch syndrome is caused by mutations in the following genes, MLH1, MSH2, MSH6, PMS2, and/or EPCAM. This paper will explore the differing risks of types of cancers between genes along with how those gene variants are identified and measures that can be taken to reduce those risks. To learn more about Lynch Syndrome you can go to the Genetics Home Reference at ghr.nlm.nih.gov. Hear from Lynch syndrome patient, Georgia Hurst, who is also an advocate and has her own support group, "I Have Lynch Syndrome" on episode 25!

Jon Lund talks to Nick Hurst, consultant colorectal surgeon with a special interest in hereditary colorectal cancers, about HNPCC. Don't forget to download the accompanying podcast on FAP to complete your knowledge of familial bowel cancers This podcast is mapped to the final stage of the ISCP curriculum, and will be very helpful to trainees coming up to FRCS and beyond.

When managing colorectal cancer risk, it's important to start with family history. In his lecture, Dr. Patrick Lynch, Professor in the Department of Gastroenterology, Hepatology, and Nutrition at The University of Texas MD Anderson Cancer Center, describes how to recommend evidence-based enhanced colorectal cancer screening for patients with hereditary nonpolyposis colorectal cancer (HNPCC).

When managing colorectal cancer risk, it's important to start with family history. In his lecture, Dr. Patrick Lynch, Professor in the Department of Gastroenterology, Hepatology, and Nutrition at The University of Texas MD Anderson Cancer Center, describes how to recommend evidence-based enhanced colorectal cancer screening for patients with hereditary nonpolyposis colorectal cancer (HNPCC).

The origins of colorectal cancer are multifactorial. Some cancers progress from premalignant polyps; others may be associated with a history of inflammatory bowel disease. Other colorectal cancers are thought to be familial. The two most common inherited syndromes linked with colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). In this lecture, Dr. Patrick Lynch, Professor in the Department of Gastroenterology, Hepatology, and Nutrition at The University of Texas MD Anderson Cancer Center, describes how to recognize distinctions between the two syndromes.

The origins of colorectal cancer are multifactorial. Some cancers progress from premalignant polyps; others may be associated with a history of inflammatory bowel disease. Other colorectal cancers are thought to be familial. The two most common inherited syndromes linked with colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). In this lecture, Dr. Patrick Lynch, Professor in the Department of Gastroenterology, Hepatology, and Nutrition at The University of Texas MD Anderson Cancer Center, describes how to recognize distinctions between the two syndromes.

About 20% of colon cancer cases are related to a strong family history of colon cancer. Eduardo Vilar-Sanchez, M.D., Ph.D., Assistant Professor in the Department of Clinical Cancer Prevention at The University of Texas MD Anderson Cancer Center, focuses his discussion on the main types of genetic colon cancers including hereditary nonpolyposis colorectal cancer syndrome or HNPCC (also called Lynch syndrome) and familial adenomatous polyposis (FAP).

Background: Pulmonary sclerosing hemangioma (SH) is a rare tumor of the lung predominantly affecting Asian women in their fifth decade of life. SH is thought to evolve from primitive respiratory epithelium and mostly shows benign biological behavior; however, cases of lymph node metastases, local recurrence and multiple lesions have been described. Case Presentation: We report the case of a 21-year-old Caucasian male with a history of locally advanced and metastatic rectal carcinoma (UICC IV; pT4, pN1, M1(hep)) that was eventually identified as having hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome). After neoadjuvant chemotherapy followed by low anterior resection, adjuvant chemotherapy and metachronous partial hepatectomy, he was admitted for treatment of newly diagnosed bilateral pulmonary metastases. Thoracic computed tomography showed a homogenous, sharply marked nodule in the left lower lobe. We decided in favor of atypical resection followed by systematic lymphadenectomy. Histopathological analysis revealed the diagnosis of SH. Conclusions: Cases have been published with familial adenomatous polyposis (FAP) and simultaneous SH. FAP, Gardner syndrome and Li-Fraumeni syndrome, however, had been ruled out in the present case. To the best of our knowledge, this is the first report describing SH associated with Lynch syndrome.

Das carcinoembryonale Antigen (CEA) ist insbesondere als Tumormarker für das kolorektale Karzinom anerkannt. Auf die hereditäre Form "HNPCC" lässt sich seine Bedeutung jedoch nicht äquivalent übertragen.

Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly MLH1, MSH2 and also MSH6 in families seen to demonstrate an excess of endometrial cancer. As a consequence, tumors in HNPCC reveal alterations in the length of simple repetitive genomic sequences like poly-A, poly-T, CA or GT repeats (microsatellites) in at least 90% of the cases. Aim of the Study: The study cohort consisted of 25 HNPCC index patients ( 19 Amsterdam positive, 6 Bethesda positive) who revealed a microsatellite stable (MSS) - or low instable (MSI-L) - tumor phenotype with negative mutation analysis for the MMR genes MLH1 and MSH2. An extended marker panel (BAT40, D10S197, D13S153, D18S58, MYCL1) was analyzed for the tumors of these patients with regard to three aspects. First, to reconfirm the MSI-L phenotype found by the standard panel; second, to find minor MSIs which might point towards an MSH6 mutation, and third, to reconfirm the MSS status of hereditary tumors. The reconfirmation of the MSS status of tumors not caused by mutations in the MMR genes should allow one to define another entity of hereditary CRC. Their clinical features were compared with those of 150 patients with sporadic CRCs. Results: In this way, 17 MSS and 8 MSI-L tumors were reclassified as 5 MSS, 18 MSI-L and even 2 MSI-H ( high instability) tumors, the last being seen to demonstrate at least 4 instable markers out of 10. Among all family members, 87 malignancies were documented. The mean age of onset for CRCs was the lowest in the MSI-H-phenotyped patients with 40.5 +/- 4.9 years (vs. 47.0 +/- 14.6 and 49.8 +/- 11.9 years in MSI-L- and MSS-phenotyped patients, respectively). The percentage of CRC was the highest in families with MSS-phenotyped tumors (88%), followed by MSI-L-phenotyped ( 78%) and then by MSI-H-phenotyped (67%) tumors. MSS tumors were preferentially localized in the distal colon supposing a similar biologic behavior like sporadic CRC. MSH6 mutation analysis for the MSI-L and MSI-H patients revealed one truncating mutation for a patient initially with an MSS tumor, which was reclassified as MSI-L by analyzing the extended marker panel. Conclusion: Extended microsatellite analysis serves to evaluate the sensitivity of the reference panel for HNPCC detection and permits phenotype confirmation or upgrading. Additionally, it confirms the MSS status of hereditary CRCs not caused by the common mutations in the MMR genes and provides hints to another entity of hereditary CRC. Copyright (C) 2004 S. Karger AG, Basel.