Cascade testing refers to testing “at-risk” family members for a gene mutation, once the mutation has been found in a family member. For Lynch syndrome, once family members get cascade testing, they can also benefit from screening, cancer prevention, and early detection strategies. Findings of a microsimulation model looking at the cost effectiveness of cascade …
Permanent link to this article: https://inheritedcancer.net/post061025/
A new study showed that compared to non-carriers, ATM, CHEK2, and PALB2 carriers showed similar mortality from breast cancer, pancreatic cancer, and colorectal cancer. Other findings among BRCA1/2 carriers and Lynch Syndrome patients showed: Why is this important?These results may be reassuring for ATM, CHEK2, and PALB2 carriers, and provide additional useful information when discussing …
Permanent link to this article: https://inheritedcancer.net/post060625/
PREMM5 is a model to estimate the risk for having Lynch Syndrome. PREMMplus is a model that estimates risks in 19-cancer risk genes, including Lynch Syndrome genes, BRCA, and other genes. A new study that compared PREMM5 and PREMMplus found that PREMMplus was just as good as PREMM5 in identifying patients with Lynch Syndrome. PREMMplus …
Permanent link to this article: https://inheritedcancer.net/post060325/
A new study among patients with Familial Adenomatous Polyposis (FAP), most of whom had a their colon removed to prevent cancer, found that although risk-reducing colectomy is now standard practice in FAP patients, colorectal cancer remains the most common cancer and cause of death in these patients. Recognizing cases of FAP that are ‘de novo’ …
Permanent link to this article: https://inheritedcancer.net/post52725/
Lynch syndrome related cancers have a distinct immune profile. They are generally “immunogenic”, meaning there might be opportunities to develop immune-interception strategies to prevent cancer. What is cancer “interception”? A new study based on work in mice showed that an EZH2 inhibitor (called GSK503) given over 9 weeks in mice lowered the number of adenomas …
Permanent link to this article: https://inheritedcancer.net/post50525/
Through linking test results to electronic health records in England from 1995 to 2019, researchers estimated risks of a second primary cancer after breast cancer for BRCA1/2 carriers (Table 1) as well as risks over 10 years (Table 2). This study gives us more generalizable information about cancer risks to help guide risk assessment and …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2025-brca1-2-second-primary-cancers-after-breast-cancer/
Apr 07
The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, Gastric Cancer guidelines on April 2nd, 2025 (Version 4.2024). In these updated guidelines, the discussion section has been updated starting on Page 74 of the PDF based on current guidelines. To read more, you can check out the full guidelines by …
Permanent link to this article: https://inheritedcancer.net/post40725/
Below is a featured video from the March 2025 case conference, during which Matt Yurgelun, MD from Dana-Farber Cancer Institute discusses colorectal cancer risk assessment.
Permanent link to this article: https://inheritedcancer.net/video30625/
The National Comprehensive Cancer Network (NCCN) released updated Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on October 3rd, 2024. In these updated guidelines, NCCN revised information about EPCAM gene (which has usually been lumped together with MSH2) as follows ⤸ You can check out the full guidelines by creating a FREE account …
Permanent link to this article: https://inheritedcancer.net/post102224/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. In these new guidelines, there were several updates for ATM carriers, including adding colorectal cancer risk as outlined in GENE-A (Page 35) and consideration of pancreatic cancer screening as outlined in PANC-A 1 of …
Permanent link to this article: https://inheritedcancer.net/post101724_1/
Oct 15
The National Comprehensive Cancer Network (NCCN) released updated Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on October 3rd, 2024. In these updated guidelines, NCCN added the following to testing being considered ⤸Personal history of colorectal or endometrial cancer at or older than age 50, and: You can check out the full guidelines …
Permanent link to this article: https://inheritedcancer.net/post101524/
Oct 09
CDH1 gastric cancer risk management options are included in the recently released National Comprehensive Cancer Network (NCCN) Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines. Gastric (stomach) cancer risk management options include ⤸ In certain circumstances, gastrectomy is recommended based on findings at biopsy or endoscopy or other persistent unexplained symptoms. Regardless, a …
Permanent link to this article: https://inheritedcancer.net/post100924/
The National Comprehensive Cancer Network (NCCN) released updated Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on October 3rd, 2024. Updates include ⤸ Added the following to testing being considered: Personal history of colorectal or endometrial cancer at or older than age 50, and: Revised information about EPCAM gene (which has usually been …
Permanent link to this article: https://inheritedcancer.net/post100824/
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 …
Permanent link to this article: https://inheritedcancer.net/100624-2/
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
Permanent link to this article: https://inheritedcancer.net/poat92524/
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 updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. Some updates include ⤸ To read more, you can check out the full guidelines by creating a FREE account at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post91224/
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/
Unlock valuable resources for your health journey! 🌟 The National Comprehensive Cancer Network (NCCN) guides clinical practice by providing free access to their guidelines that are available to both patients and healthcare providers. To access the most recent version of cancer-related guidelines that are updated at least annually, create a free username and password at …
Permanent link to this article: https://inheritedcancer.net/post82024/
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. …
Permanent link to this article: https://inheritedcancer.net/post11024/
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.
Permanent link to this article: https://inheritedcancer.net/post111523/
Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic CancerReleased August 28th, 2023 (V1.2024) › Transgender, Non-Binary, and Gender Diverse Individuals: NEW section on care (Page 63-66, TNBGD-1 to 4)› Li-Fraumeni Syndrome: Significant updates to content (risks and care) (Pages 57-60, LIFR-A): Table added …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-national-comprehensive-cancer-network-nccn-guidelines-updates/
Permanent link to this article: https://inheritedcancer.net/post62223/
The National Comprehensive Cancer Network (NCCN) just released updated colorectal cancer guidelines which includes: You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
Permanent link to this article: https://inheritedcancer.net/post60823/
Among patients with multiple primary cancers, the proportion with inherited cancer gene mutations increased with the number of primary cancers:• 2 cancers: 13.1%• 3 cancers: 15.9%• 4+ cancers: 18.0% Many of the double primaries, such as those of the breast, ovary, colorectum, and endometrium, occurred in women who would already be eligible for genetic testing. …
Permanent link to this article: https://inheritedcancer.net/post60723/
In a multicenter study evaluating reclassifications of variant of uncertain significance (VUS) results in breast, ovarian, and colorectal cancer susceptibility genes, it was discovered that of 3261 VUS results, 8.1% were reclassified. Of all the reclassified VUS results, 11.3% resulted in clinically actionable findings, and 4.6% led to changes in clinical management. The reclassification rates …
Permanent link to this article: https://inheritedcancer.net/post60523/
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.
Permanent link to this article: https://inheritedcancer.net/post50623/
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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023/
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, …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-national-comprehensive-cancer-network-nccn-guidelines-updates/
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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A new study shows germline MBD4 mutations cause an autosomal recessive tumor predisposing syndrome associated with: This highlights the importance of including MBD4 in genetic testing for polyposis and multi-tumor phenotypes to improve disease management. Use the link in bio to learn more! Reference: Palles, et al. Am J Hum Genet. 2022;109(5):953-960. PMID: 35460607.
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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/
Why have genetic testing? Genetic testing for inherited cancer can help guide care, including:• Cancer treatment plans, such as chemotherapy, drugs, surgery, and radiation• Cancer screening and prevention Sharing genetic test results can also help family members understand their cancer risks.
Permanent link to this article: https://inheritedcancer.net/post22423/
Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic – Released September 7th, 2022› Testing eligibility based on personal history of any type of breast cancer in females was updated from age ≤45 to ≤50 making more females with breast cancer eligible for testing …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-national-comprehensive-cancer-network-nccn-guidelines-updates/
At the age of 51, my first and only colonoscopy revealed 100 polyps in my colon, rectum, and anuseven though I had no symptoms or family history. I was immediately referred to a Certified GeneticCounselor at Tripler Army Medical Center in Hawai’i. Germline DNA testing revealed I had attenuatedfamilial adenomatous polyposis (AFAP), due to an …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-community-spotlight/
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
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-updates-to-nccn-genetic-familial-high-risk-assessment/
A recent study found that pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with multiple cancers. Specifically, moderate-to-high risks for pancreatic, prostate, gastric, and invasive ductal breast cancers, and low-to-moderate risks for ductal carcinoma in situ, male breast cancer, ovarian cancer, colorectal cancer, and melanoma.This provides more data to guide risks and …
Permanent link to this article: https://inheritedcancer.net/post62122/
Below you may watch a featured video from the March 2022 Genetics Case Conference focused on inherited colorectal cancer and polyposis syndromes with guest expert Heather Hampel, MS, LGC.
Permanent link to this article: https://inheritedcancer.net/video31022/
In every ICARE newsletter we feature a 𝗰𝗼𝗺𝗺𝘂𝗻𝗶𝘁𝘆 𝘀𝗽𝗼𝘁𝗹𝗶𝗴𝗵𝘁 to share their experience with inherited cancer. In the latest edition, Dan Dry Dock Shockley, shares his experience with attenuated familial adenomatous polyposis (AFAP). Check out his full story at 👇https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post123021/
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.
Permanent link to this article: https://inheritedcancer.net/post113021/
For more information, view the article at: https://ascopubs.org/doi/10.1200/PO.20.00525
Permanent link to this article: https://inheritedcancer.net/post72721/
For additional information, read the article at the link below: https://academic.oup.com/ajcn/article-abstract/113/4/810/6155851
Permanent link to this article: https://inheritedcancer.net/post72021/
The United States Preventive Services Task Force (USPSTF) now recommends routine colorectal cancer screening begin at age 45 (lowered from the previous recommendation to start screening at age 50) due to an increasing number of colorectal cancer cases in younger adults. For more information, check out the full JAMA article at: https://jamanetwork.com/journals/jama/fullarticle/2779985
Permanent link to this article: https://inheritedcancer.net/post52121/
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/
Permanent link to this article: https://inheritedcancer.net/post31921/
In honor of 𝗖𝗼𝗹𝗼𝗿𝗲𝗰𝘁𝗮𝗹 𝗖𝗮𝗻𝗰𝗲𝗿 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗠𝗼𝗻𝘁𝗵, we wanted to highlight the National Cancer Institute’s Colorectal Cancer Risk Assessment Tool (CCRAT) designed for healthcare providers to use with select patients to estimate the risk of colorectal cancer. You may access the tool at https://ccrisktool.cancer.gov
Permanent link to this article: https://inheritedcancer.net/post31221/
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.
Permanent link to this article: https://inheritedcancer.net/video31121/
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. …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2021/
Gene: 𝙋𝙏𝙀𝙉 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 85% – Recommend annual mammogram starting at age 30-35 (or 5-10 years before the earliest known breast cancer in the family); consider breast MRI with contrast starting at age 30-35; consider …
Permanent link to this article: https://inheritedcancer.net/post102320/
Gene: 𝙏𝙋𝟱𝟯 Syndrome: Li-Fraumeni Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 54% – Recommend clinical breast exam every 6-12 months starting at age 20, annual breast MRI with contrast starting at age 20, and annual mammogram starting at age 30; …
Permanent link to this article: https://inheritedcancer.net/post101620/
Gene: 𝘾𝙃𝙀𝙆2 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 & Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast Cancer Risk: Elevated at 28-44% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs with contrast starting at age 40. 𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻: Colorectal Cancer Risk: Elevated …
Permanent link to this article: https://inheritedcancer.net/post100920/
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!
Permanent link to this article: https://inheritedcancer.net/post92920/
The GREM1 gene leads to hereditary mixed polyposis syndrome, characterized by multiple polyps of mixed pathology and high risks for colorectal cancer. A specific duplication in the 5′ regulatory region of the GREM1 gene has been found in a subset of Ashkenazi Jewish individuals with hereditary mixed polyposis syndrome; therefore, GREM1 genetic testing is …
Permanent link to this article: https://inheritedcancer.net/post90420/
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 …
Permanent link to this article: https://inheritedcancer.net/7nls2020/
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 …
Permanent link to this article: https://inheritedcancer.net/1nls2020/
A recent study focused on how polygenic risk scores (PRS) may be related to colorectal cancers. Of note, PRS are calculated using genetic differences throughout someone’s DNA, in combination with their clinical and family history of cancer. PRS, alongside environmental and lifestyle risk factors, may help to identify people who may benefit from screening at …
Permanent link to this article: https://inheritedcancer.net/5nls2020/
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 …
Permanent link to this article: https://inheritedcancer.net/post72420/
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 …
Permanent link to this article: https://inheritedcancer.net/post63020/
A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someone’s DNA, in combination with clinical and family history of cancer. This score, alongside environmental and lifestyle risk factors, may help to identify people who might benefit from screening at an earlier age. Important facts about PRS: – It does NOT look for changes …
Permanent link to this article: https://inheritedcancer.net/post31320/
New colon cancer and polyposis genes recently identified include NTHL1, POLE, POLD1, MSH3, and RNF43. Previous studies suggest these genes raise the risk for colon cancer and polyposis; however, recent data suggest that environmental factors may also play an important role in risk. Ultimately, these genes account for a very small fraction of polyposis cases. …
Permanent link to this article: https://inheritedcancer.net/post3620/
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, …
Permanent link to this article: https://inheritedcancer.net/5nlw2020/
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 …
Permanent link to this article: https://inheritedcancer.net/post22020/
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 …
Permanent link to this article: https://inheritedcancer.net/post2720/
(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 …
Permanent link to this article: https://inheritedcancer.net/1nls2019/
A gene called GALNT12 may be yet another inherited colorectal cancer gene,1 as originally suggested by prior studies.2 The current study screened almost 500 colorectal cancer patients and identified 8 rare variants that may be disease causing. The frequency of variants among colorectal cancer patients was much higher than that observed among population-matched healthy controls, …
Permanent link to this article: https://inheritedcancer.net/13nlw2019/
Through a randomized trial, patients with FAP were treated with sulindac and erlotinib versus placebo for 6 months. Results of the study showed that those treated with sulindac and erlotinib had 70% fewer polyps than those in the placebo group. The lower number of polyps was seen in both those with an intact colorectum and …
Permanent link to this article: https://inheritedcancer.net/9nls2018/
In a study of 51 individuals with multiple colon polyps drawn from 48 families, genetic testing through whole-exome sequencing identified 7 individuals (from 3 unrelated families) to have a mutation in both copies of their NTHL1 gene, and pedigree structure was consistent with autosomal recessive inheritance.1 All these individuals had colorectal cancer and a large …
Permanent link to this article: https://inheritedcancer.net/6nls2018/
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 …
Permanent link to this article: https://inheritedcancer.net/2nls2018/
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 …
Permanent link to this article: https://inheritedcancer.net/7nlw2018/
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 …
Permanent link to this article: https://inheritedcancer.net/5nls2017/
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 …
Permanent link to this article: https://inheritedcancer.net/4nlw2017/
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 …
Permanent link to this article: https://inheritedcancer.net/2nls2016/
Over the last few months, a number of additional genes associated with inherited cancer predisposition have been identified. A few of these genes include: 1) the RECQL gene which appears to be another rare gene involved in inherited breast cancer1; 2) the SMAD9 gene associated with hamartomatous polyposis and ganglioneuromas of the intestinal tract2; 3) …
Permanent link to this article: https://inheritedcancer.net/2nls2015/
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 …
Permanent link to this article: https://inheritedcancer.net/6nls2015/
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 …
Permanent link to this article: https://inheritedcancer.net/6nlw2015/
New inherited cancer genes continue to be discovered with the exciting advances made possible through next-generation sequencing technologies. Recent studies identified that the POL genes predispose to inherited colorectal cancer.1,2,3 In one study, Niemenen and colleagues studied a four-generation family with Lynch Syndrome with no evidence of mismatch repair deficiency.2 Through various means (including genetic …
Permanent link to this article: https://inheritedcancer.net/4nlw2015/
