Gene: ๐๐๐๐ Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: ๐ช๐ผ๐บ๐ฒ๐ป: 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: ๐๐๐ฑ๐ฏ Syndrome: Li-Fraumeni Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: ๐ช๐ผ๐บ๐ฒ๐ป: 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: ๐พ๐๐๐2 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: ๐ช๐ผ๐บ๐ฒ๐ป: 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. ๐ ๐ฒ๐ป ๐ฎ๐ป๐ฑ ๐ช๐ผ๐บ๐ฒ๐ป: 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 on๐๐ฟ๐ถ๐ฑ๐ฎ๐, ๐ข๐ฐ๐๐ผ๐ฏ๐ฒ๐ฟ ๐ต๐๐ต ๐ณ๐ฟ๐ผ๐บ ๐ญ๐ฝ๐บ-๐ฑ๐ฝ๐บ ๐๐ง 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 someoneโs 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 someoneโs 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 โmulti-gene panel testingโ), 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 โUniversal Tumor Screeningโ). 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/
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