The National Comprehensive Cancer Network (NCCN) released the new Genetic/Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on August 8th, 2024. An important update includes the revision of CHEK2 estimated absolute colon cancer risk to “NO INCREASED RISK”; thus, general population screening is appropriate for these individuals. You can check out the full guidelines …
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Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer – Released September 11th, 2024 (V1.2025) Check out the full guidelines by creating a FREE account at www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Testing Updates: Gene Updates: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric Cancer – Released August 8th, 2024 (V1.2024) Check out the full guidelines by creating a FREE account at …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-national-comprehensive-cancer-network-nccn-guideline-updates/
The National Comprehensive Cancer Network (NCCN) released the new Genetic/Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on August 8th, 2024. Updates include use of hormone replacement treatment following premature surgical menopause from risk-reducing oophorectomy. You can check out the full guidelines by creating a FREE account at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf
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The National Comprehensive Cancer Network (NCCN) released the new Genetic/Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on August 8th, 2024. Updates include gynecologic risk and preventive surgery considerations for MLH1, MSH6, MSH2, and PMS2 carriers. You can check out the full guidelines by creating a FREE account at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf
Permanent link to this article: https://inheritedcancer.net/post91824/
The National Comprehensive Cancer Network (NCCN) released the new Genetic/Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on August 8th, 2024. Updates include ⤸ You can check out the full guidelines by creating a FREE account at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf
Permanent link to this article: https://inheritedcancer.net/post91424/
The National Comprehensive Cancer Network (NCCN) released the new Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on August 8th, 2024. Updates include ⤸• Endometrial cancer recommendations included throughout• Hereditary Diffuse Gastric Cancer section added (HGAST-1)• Gynecologic risk and preventive surgery considerations for those with Lynch Syndrome• Use of hormone replacement treatment following …
Permanent link to this article: https://inheritedcancer.net/post90324/
A new research study among individuals with Lynch Syndrome reported that regular and intense aerobic exercise may lower the risk of colorectal cancer by improving the immune system’s ability to detect and remove potentially harmful cells. Specifically, the researchers enrolled 21 patients with Lynch Syndrome either to an 1) exercise group (45 minute cycling classes …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-aerobic-exercise-may-reduce-risk-of-colorectal-cancer-in-patients-with-lynch-syndrome/
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer – Released February 12th, 2024 (V3.2024) Check out the full guidelines by creating a FREE account at www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Contralateral breast cancer risks in these updated guidelines: Expanded guidance about gynecologic cancers in BRCA1/2 carriers: Some highlights related to HRT include: Genetic/Familial High-Risk Assessment: Colorectal Cancer – Released …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-national-comprehensive-cancer-network-nccn-guideline-updates/
New research reveals that individuals under the age of 50 with Lynch Syndrome often develop small, flat adenomas, particularly in the right (proximal) colon. This finding emphasizes the importance of rigorous screening, with a special focus on the proximal colon, among these young Lynch Syndrome patients 🩺🔍 Learn more at: https://www.dldjournalonline.com/article/S1590-8658(23)00946-5/fulltext Reference: Alric, et al. …
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New research suggests regular, intense aerobic exercise may lower colorectal cancer risk in Lynch Syndrome patients 🏃♂️🧬 Learn more at: https://tinyurl.com/2s44828h Reference: Deng, et al. Clin Cancer Res. 2023; 29(21): 4361-4372. PMID: 37724990.
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This question was addressed by Kelly Taylor, MS, LCGC, a licensed and certified genetic counselor with expertise inresearch genetics and hereditary cancers at the Vanderbilt Hereditary Cancer Clinic. If you have a question you wouldlike addressed, please email the ICARE team at ICARE@vumc.org for consideration in future newsletters. Q: I have Lynch Syndrome and an …
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Recent study findings suggest that BRCA1/2, PALB2, ATM, CHEK2, and the Lynch Syndrome genes might confer reduced penetrance cancer risk among children. However, there are no adjustments to management or testing recommendations based on the level of risk (i.e., normally do not test children for conditions that primarily increase the risk of cancer in adulthood). …
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According to a recent study among individuals with Lynch Syndrome: Use the link in bio to learn more! Reference: Zhong et al. J Am Acad Dermatol. 2023;S0190-9622(23)00173-1. PMID: 36773823.
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A study of 381 individuals with Lynch Syndrome in New Zealand (98 with Lynch Syndrome-associated variants in MLH1, 159 in MSH2, 103 in MSH6, and 21 in PMS2) found that risks for colorectal cancer were lower in MSH6 and PMS2 carriers, suggesting that it might be possible to spread out colonoscopy intervals for these individuals.1 …
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Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, PancreaticJanuary 10th, 2023 (Version 2.2023) focused on male BRCA carriers:› Consider annual mammograms (particularly in BRCA2 carriers) starting at age 50 or 10 years before the earliest male breast cancer in the family (whichever comes first)February 13th, …
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Findings from a recent study: Risk factors for metachronous colorectal cancer included a history of colorectal polyps and having an MLH1 or MSH2 mutation, while protective factors included female sex and extended surgical resection. This highlights the importance of genetic testing and counseling for Lynch syndrome prior to surgery, which can influence surgical strategy and …
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A study on colorectal cancer risks in Lynch Syndrome patients found that:• Colorectal cancer risks were lower in MSH6 and PMS2 carriers• Colonoscopy intervals for these individuals could be longer• Incomplete polyp removal may be responsible for 1/3 of surveillance-detected colorectal cancers Read the full article with the link in bio! Reference: Lamba, et al. …
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Below you may watch a featured video from the March 2023 Genetics Case Conference, which focused on IMPULSS, a service delivery model for Lynch Syndrome carriers, with guest expert Deborah Cragun, PhD, MS, CGC from the University of South Florida.
Permanent link to this article: https://inheritedcancer.net/video30923/
Genetic testing sounded like a futuristic concept when it originally came to our attention. It sounded something to the likes of cloning. We didn’t really understand what it was and why it was important, but rather thought it sounded like something out of science fiction. Thankfully, our medical providers and genetic counselors stuck with us …
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Lynch Syndrome Carriers with Advanced Uterine Cancer: Treatment with PembrolizumabWomen with Lynch Syndrome are at high risk for uterine cancer. The type of uterine cancer they develop has the tumorcharacteristic of being ‘MSI-H’. A new study indicated treatment with pembrolizumab (Keytruda) resulted in benefit inpatients with MSI-H advanced uterine cancer. Von Hippel-Lindau Patients: Treatment of …
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A new study suggests men with certain MSH2 and MSH6 mutations have higher risks of prostate cancer and may be candidates for PSA screening. Bancroft et al. Lancet Oncol. 2021 Nov. PMID: 34678156. Social media postDecember 17th, 2021. Available at: https://tinyurl.com/post121721
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Breast, Ovarian, and Pancreatic Guidelines V.1.2022: Released August 11th, 2021 Colorectal Cancer Guidelines V.1.2021: Released May 11th, 2021 Check out the full NCCN guidelines by creating a FREE account at www.nccn.org
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A recent study found that earlier diagnosis improved survival in people at high risk of pancreatic cancer.High risk was defined based on:family history and/orinherited gene mutation (BRCA1, BRCA2, CDKN2A, Lynch Syndrome genes, PALB2, ATM, and STK11)Read the article at the link: https://ascopost.com/news/june-2022/outcomes-of-pancreas-surveillance-in-the-caps5-study-and-total-caps-cohort/Reference: Dbouk, et al. J Clin Oncol. 2022 Jun 15:JCO2200298. doi: 10.1200/JCO.22.00298. PMID: 35704792.
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A new study indicated treatment with pembrolizumab (Ketruda) resulted in benefit in patients with MSI-H advanced uterine cancer. Read the full article to learn more!https://ascopubs.org/doi/10.1200/JCO.21.01874Reference: O’Malley et al. J Clin Oncol. 2022 Jan 6;JCO2101874. PMID: 34990208.
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A new study suggests men with MSH2 and MSH6 mutations have a higher incidence of prostate cancer, and may be candidates for PSA screening. Read the full article to learn more 👇 https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00522-2/fulltext Reference: Bancroft et al. Lancet Oncol. 2021 Nov;22(11):1618-1631. PMID: 34678156.
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For more information, read the Lancet Oncology article led by The International Mismatch Repair Consortium at the below link 👇https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00189-3/fulltext Reference: International Mismatch Repair Consortium. Lancet Oncol. 2021 Jul;22(7):1014-1022. PMID: 34111421.
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In every ICARE newsletter we feature a 𝗰𝗼𝗺𝗺𝘂𝗻𝗶𝘁𝘆 𝘀𝗽𝗼𝘁𝗹𝗶𝗴𝗵𝘁 to share their experience with inherited cancer. In the latest edition, Dave Dubin, co-founder of AliveAndKickn, shares his experience with Lynch Syndrome. Check out his full story at: https://inheritedcancer.net/community-spotlight/
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Below you may watch a featured video from the March 2021 Genetics Case Conference, which focused on inherited colorectal cancer with guest expert Georgia Wiesner, MD from Vanderbilt University Medical Center.
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My genes don’t define me. I am AliveAndKickn. Pretty bold statement. AliveAndKickn is more than just a name. It’s a way of life. I joke that Lynch Syndrome is the genetic predisposition to colon cancer, endometrial cancer, other cancers…and soccer. But that’s just me. Besides half a dozen surgeries since 1997, I have and still play and coach the game I love. …
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The most common inherited form of urothelial cancers is Lynch Syndrome. However, a study showed that of 586 individuals with urothelial cancer, 80 had a mutation in an inherited cancer gene (14%). Mutations in several genes were observed; however, 𝙈𝙎𝙃2 and 𝘽𝙍𝘾𝘼2 were both significantly associated with urothelial cancer (odds ratio of 3.7). Confirmatory …
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SJoin the Colon Cancer Coalition and AliveAndKickn for the Living with Lynch 2020 Virtual Patient Workshop on𝗙𝗿𝗶𝗱𝗮𝘆, 𝗢𝗰𝘁𝗼𝗯𝗲𝗿 𝟵𝘁𝗵 𝗳𝗿𝗼𝗺 𝟭𝗽𝗺-𝟱𝗽𝗺 𝗘𝗧 to hear unique patient perspectives and the latest information from experts on Lynch syndrome. Visit https://www.livingwithlynch.org/2020-living-with-lynch to register for this free workshop today!
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There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: Lynch Syndrome: Colorectal Cancer: Among patients with MSI-H or MMR-deficient colorectal cancers (frequently seen among those with Lynch syndrome), pembrolizumab …
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Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Guidelines (Version 1.2020, posted July 21, 2020) For individuals with Lynch Syndrome: Cancer risks were updated based on information from recent studies: Main updates included cancer risks in PMS2 (endometrial, ovarian, and prostate cancer), MSH2 and EPCAM (prostate and brain cancer), and MSH6 (prostate …
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The National Comprehensive Cancer Network (NCCN) released new guidelines for 2020 on July 21, 2020. The big changes included refining some of the risks for genes involved in Lynch Syndrome, and providing specific guidance about cancer screening that may slightly differ by gene. You can check out the full guidelines by creating a FREE account …
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On June 29, 2020, the FDA approved the use of Keytruda (pembrolizumab), as first-line treatment in unresectable or metastatic, microsatellite instability-high (MSI-H) or mismatch repair-deficient (dMMR) colorectal cancer. Among people with Lynch syndrome, the risk for colorectal cancer (which often has microsatellite instability and/or mismatch-repair deficiency) is raised. Keytruda (pembrolizumab) showed to double the progression-free …
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A worldwide study reporting on cancer risks among individuals with mutations in Lynch syndrome genes showed that there are substantial differences in cancer risks across the various genes.1 Specifically, the risk for colorectal cancer in those with MLH1, MSH2, and MSH6 mutations was substantially higher than what was seen for those with PMS2 mutations. Additionally, …
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Individuals with Lynch syndrome have an increased risk of colorectal cancer (CRC) and other cancers. The level of CRC risk is different based on which gene they have a mutation in. Of note, MLH1 and MSH2 carriers have the highest risk of colorectal cancer, generally in the range of 43%-52% by age 70. A recent …
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A worldwide study suggests that risks for cancers for the various Lynch syndrome genes have some differences. The risk of colorectal cancer for those with a mutation in the MLH1, MSH2 and MSH6 genes is higher than what is seen for carriers of a PMS2 mutation. Additionally, men with MSH2 gene mutations have a higher …
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A recent phase II study showed increased response to an immunotherapy drug (avelumab), in women with endometrial cancer with mismatch repair deficiency. Among women with Lynch Syndrome, the risk for endometrial cancer (which often has mismatch repair deficiency) is raised. This new study shows promising treatment options for women with endometrial cancer and Lynch syndrome …
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Happy New Year! 2020 represents a decade for ICARE We are celebrating 10 years of research, education, and engagement, through which we have enrolled nearly 3500 participants, including over 2000 gene mutation carriers, disseminated 15 newsletters, led and collaborated on multiple research projects, and impacted individuals affected by inherited cancer predisposition all over the …
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(Version 1.2019, posted July 3, 2019) For Individuals with Lynch Syndrome: The cancer risk table was updated: Addition of new cancer risks by specific genes: breast and bladder cancers Updates of cancer risks by specific genes: ovarian, prostate, gastric, pancreatic, urothelial, small bowel, and brain/CNS cancers Removal of reference to sebaceous neoplasms Recommendations for cancer …
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Pertaining to metastatic prostate cancer, recently published data reported 8.1% of men with advanced prostate cancer had evidence of mismatch repair (MMR) mutations in their tumors. These types of mutations are frequently seen in tumors among Lynch syndrome patients. In addition, men with this type of tumor had much poorer survival. Tumors with MMR defects …
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An interesting area of progress to identify individuals with inherited risks included a study of over 13,000 individuals with six or more basal cell cancers (BCC) evaluated through a claims database. Results indicated ~20% of these individuals had a germline mutation in a DNA repair gene, including BRCA1/2, PALB2, and the Lynch syndrome genes, among …
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Although the Lynch syndrome tumor spectrum is thought to be limited to cancers of the colorectum, endometrium, ovaries, stomach, and a few other cancer types, a recent article suggested there might be a broader tumor spectrum than previously considered. Furthermore, colorectal and endometrial cancers which develop among Lynch syndrome patients frequently are determined on tumor …
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For Individuals with Lynch Syndrome: Surveillance for gastric and small bowel cancer now indicates there is no clear data to support this, but surveillance can be performed every 3-5 years starting at age 40 Lack of evidence to make a recommendation for pancreatic or prostate cancer screening, beyond those already recommended through other NCCN Guideline …
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Breast cancer risks were recently reported among a sample of 423 women with mutations in one of the Lynch syndrome genes (MLH1, MSH2, MSH6, or PMS2).1 Results indicated that breast cancer risks were substantially higher among those with MSH6 and PMS2 mutations, compared to MLH1 and MSH2 mutations. In fact, breast cancer risk to age …
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Over the past year, multiple studies have refined risks and types of cancer among individuals with Lynch syndrome. Through a Scandinavian study, risks for 13 types of cancer (with colorectal cancers being excluded), were reported to be elevated with differences related to gender, age, and the gene in which mutation was present. Incidence rates of …
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A recently published phase II clinical trial investigated the use of a new class of drugs (called PD-1 Inhibitors) in DNA mismatch repair-deficient/ microsatellite instability-high colorectal tumors (which are features seen in the majority of colorectal tumors from individuals with Lynch Syndrome) among patients with metastatic disease.1 Investigators found patients who received two PD-1 Inhibitors …
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Over the last few years, immunotherapy has emerged as an exciting new class of drugs. As early as 2015, immunotherapy through PD-1 Inhibitors among patients with MSI-H colorectal cancers was shown to be of potential benefit.1 As many individuals with Lynch Syndrome have cancers that are MSI-H and mismatch repair deficient, this class of drugs …
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There continues to be rapid advances in identifying new genes involved in inherited cancer risk. An example of yet another recently identified gene is FAN1, in which a nonsense variant (i.e. the premature change or loss of a protein) was identified following exome sequencing in 3 individuals from a family who met clinical criteria for …
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People with Lynch Syndrome have a non-working Lynch gene (“mutation”), while the other copy of that gene is normal (recognizing that all of these genes come in pairs, with one member of the pair coming from each parent). Over the last few years, there has been an increased realization that some individuals have a mutation …
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The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called “multi-gene panel testing”), the Breast/Ovarian and Colorectal Panels sought to provide …
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The most common form of inherited ovarian cancer is due to mutations in the BRCA1 and BRCA2 genes, which are present in 10-15% of women with ovarian cancer and lead to an ovarian cancer risk of up to 44% and 27%, respectively. Another set of genes known to raise ovarian cancer risks are the mismatch …
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Although pancreatic cancer is one of the cancer types seen among individuals with mutations in inherited cancer genes (including BRCA2 and BRCA1), the proportion of individuals with pancreatic cancer who have an inherited cause has remained uncertain. To further clarify the role of BRCA1 and BRCA2 (BRCA), over 300 patients with pancreatic cancer were tested …
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A study of over 1800 individuals with a mutation in one of the Lynch Syndrome genes was recently completed to assess whether aspirin and ibuprofen use may reduce colon cancer risk. Results showed that in those who took aspirin or ibuprofen for between 1 month and 4.9 years, the colon cancer risks were lower than …
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Genetic/Familial High-Risk Assessment: Colorectal Guidelines Recommendation that tumors from newly diagnosed colorectal cancer patients be screened for Lynch syndrome (called “Universal Tumor Screening”). A new algorithm was created for Routine Tumor Testing Criteria for Lynch Syndrome Surveillance/Management recommendations were refined by gene for the various Lynch Syndrome genes. Management recommendations were refined for other inherited …
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Over the last few years, there have been studies to suggest that men with Lynch Syndrome may have a higher risk for developing prostate cancer.1,2,3,4,5 The results of these studies have differed as to whether there is an association with an aggressive form of disease. For example, some studies report the risk of developing prostate …
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The cancer spectrum typically seen in individuals with Lynch Syndrome includes cancers of the colon, endometrium, ovary, stomach, and other cancers (including cancer of the renal pelvis, ureter, small bowel and pancreas). The issue of whether breast cancer risk is elevated in those with Lynch syndrome has been controversial, with conflicting results between various studies. …
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