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/
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/
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/
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/
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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-community-spotlight/
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
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-lynch-syndrome-and-prostate-cancer/
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-which-genes-are-confirmed-as-inherited-breast-cancer-genes/
A new study led by colleagues at Vanderbilt University Medical Center, including our clinical geneticist colleague, Dr. Georgia Wiesner, evaluated 23 hereditary cancer genes and found 19 new gene associations including 7 new associations with cancer and 12 new associations with noncancer diseases. The associations with cancer versus other conditions is included in the table. …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-inherited-cancer-genes-new-associations/
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 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.
Permanent link to this article: https://inheritedcancer.net/post72622/
A new study evaluated 23 hereditary cancer genes and found 19 new gene associations, including 7 new associations with cancer and 12 new associations with non-neoplastic diseases. Specifically, the below genes were found to have an increased risk of disease:APC: benign liver/bile duct tumors, gastritis, and duodenitisATM: stomach cancer and pancreatic cancerBRCA1/2: ovarian cystsCHEK2: leukemia …
Permanent link to this article: https://inheritedcancer.net/post60122/
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.
Permanent link to this article: https://inheritedcancer.net/post121721/
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 additional information, read the article at the following link: https://www.nejm.org/doi/10.1056/NEJMoa2005936
Permanent link to this article: https://inheritedcancer.net/post62521/
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/
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/
For additional information about the: 》US-based study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa2005936 》International study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa1913948 》Accompanying editorial: https://www.nejm.org/doi/full/10.1056/NEJMe2035083
Permanent link to this article: https://inheritedcancer.net/post30921/
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/
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/
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/
Gene: MSH6 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: 17%-46% – Consider risk-reducing hysterectomy. Ovarian cancer risk: 1%-11% – Evidence is insufficient to make specific recommendations. Men and Women: Colorectal cancer risk: 15%-44% – Recommend colonoscopy every 1-2 years starting at age 20-25. Gastric cancer risk: 0%-5% – Consider upper …
Permanent link to this article: https://inheritedcancer.net/post31720/
The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated recommendations about pancreatic cancer screening through MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or an endoscopic ultrasound (EUS).1 Specifically, these guidelines now recommend that individuals with a CDKN2A or STK11 mutation begin screening at age 40. Screening for individuals with a BRCA1/2, ATM, PALB2, MLH1, or …
Permanent link to this article: https://inheritedcancer.net/4nlw2020/
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/
The National Comprehensive Cancer Network (NCCN) and the International Cancer of the Pancreas Screening (CAPS) Consortium recently updated pancreatic cancer screening recommendations. However, there are some differences between these recommendations. Specifically, screening with annual MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or endoscopic ultrasound (EUS) is recommended as follows for NCCN versus CAPS: STK11 regardless of family history: …
Permanent link to this article: https://inheritedcancer.net/post2620/
The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated pancreatic cancer screening recommendations. The recommendations include: Screening with MRI/magnetic retrograde cholangiopancreaography (MRCP) and/or endoscopic ultrasound (EUS) The screening was recommended for the following individuals: CDKN2A and STK11 mutation carriers starting at age 40 BRCA1/2, ATM, PALB2, MLH1, and MSH2 mutation carriers (if …
Permanent link to this article: https://inheritedcancer.net/post2420/
(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/
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 …
Permanent link to this article: https://inheritedcancer.net/7nlw2019/
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 …
Permanent link to this article: https://inheritedcancer.net/10nlw2019/
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 …
Permanent link to this article: https://inheritedcancer.net/6nlw2019/
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 …
Permanent link to this article: https://inheritedcancer.net/3nls2018/
A recent study reported on cancer risks among over 10,000 cancer patients across the United States who had genetic testing. Findings suggest breast cancer risks were associated with ATM, CHEK2, and PALB2, as expected; but an association was also found with MSH6 (in line with other recently published data, as outlined in another article in …
Permanent link to this article: https://inheritedcancer.net/7nls2018/
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 …
Permanent link to this article: https://inheritedcancer.net/5nls2018/
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/
In a recent study which included over 800 patients with pancreatic ductal cancer, inherited cancer gene mutations were found in a much higher proportion than expected. Almost 5% of these patients had mutations identified in inherited cancer genes, the majority of which were in genes thought to be associated with pancreatic cancer (including BRCA2, ATM, …
Permanent link to this article: https://inheritedcancer.net/9nlw2018/
Permanent link to this article: https://inheritedcancer.net/2nls2017/
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 …
Permanent link to this article: https://inheritedcancer.net/2nlw2017/
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/
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 …
Permanent link to this article: https://inheritedcancer.net/2nlw2016/
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 …
Permanent link to this article: https://inheritedcancer.net/7nlw2016/
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 …
Permanent link to this article: https://inheritedcancer.net/6nls2014/
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. …
Permanent link to this article: https://inheritedcancer.net/3nlw2013/
