Emily Kuchinsky, certified genetic counselor, discusses Lynch syndrome with WMAR Channel 2. To learn more about Emily Kuchinsky and genetic testing and counseling visit https://www.medstarcancer.org/....treatments/genetic-t

Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited condition that increases the risk of many types of cancer, especially colorectal cancer. Mayo Clinic oncologist Frank Sinicrope, M.D., discusses how to evaluate patients who have Lynch syndrome, and how to treat those who develop cancer. To learn more, visit https://mayocl.in/2Nz8cIz

Visit: https://www.dana-farber.org/LynchSyndrome Matthew Yurgelun, MD, a gastrointestinal medical oncologist and Director of the Lynch Syndrome Center at Dana-Farber Cancer Institute describes Lynch syndrome, an inherited genetic alteration that increases risk for a wide variety of cancers and affects about 1 in 300 people in the US. He discusses screenings and prevention techniques that people with Lynch syndrome need to have.

For more information, visit https://www.ambrygen.com/clini....cian/genetic-testing

Lynch syndrome, previously known as hereditary non-polyposis colorectal cancer (HNPCC), is caused by mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2, and EPCAM. Lynch syndrome is the most common hereditary form of colorectal cancer. It affects about 1 in 440 individuals in the U.S.

Test Description
MLH1 coding exons 1-19, MSH2 coding exons 1-16, MSH6 coding exons 1-10, and PMS2 coding exons 1-15, and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for all coding exons of MLH1, MSH2, MSH6, and PMS2, and coding exon 9 of EPCAM. The inversion of coding exons 1-7 of the MSH2 gene is detected by NGS and confirmed by PCR and agarose gel electrophoresis. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1 Gross deletion/duplication analysis of MLH1, MSH2, MSH6, and PMS2 using read-depth from NGS data and EPCAM using multiplex ligation-dependent probe amplification (MLPA) is also performed. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray and/or MLPA. If a deletion is detected in exons 13, 14, or 15 of PMS2, double stranded sequencing of the appropriate exon(s) of the pseudogene, PMS2CL, will be performed to determine if the deletion is located in the PMS2 gene or pseudogene. If a deletion is detected in exon 9 of EPCAM, deletion/duplication analysis of coding exons 3 and 8 of EPCAM will be performed. For EPCAM, only gross deletions encompassing the 3’ end of the gene are reported.

Rachel Silva-Smith, MSc, Certified Genetic Counselor, reviews the cause of Lynch Syndrome, the cancers risks, and risk management options including screening tools, preventative surgery, and modifiable risk factors. She also discusses genetic discrimination and how having Lynch Syndrome can impact your children.

PREMM5 model to predict the risk of Lynch Syndrome: https://premm.dfci.harvard.edu/

LYNCH SYNDROME SUPPORT GROUPS:
Lynch Syndrome International: https://lynchcancers.com/
Hereditary Colon Cancer Takes Guts: https://www.hcctakesguts.org/

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Lynch syndrome is a hereditary cancer syndrome that affects thousands of people.

Three years ago, John was diagnosed with it after a family member tested positive. Today, on #LynchSyndromeAwarenessDay, he shares his colonoscopy story to encourage others to get tested and know their risk.

Learn more about Lynch syndrome at bit.ly/CRC-and-Lynch.

#coloncancer #colorectalcancer #coloncancerawareness #lynchsyndrome #colonoscopy


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Video abstract of case report paper “Thyroid cancer in a patient with Lynch syndrome – case report and literature review” published in the open access journal Therapeutics and Clinical Risk Management by authors Monika Fazekas-Lavu, Andrew Parker, Allan D Spigelman et al.

Abstract: Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1, MSH2, MSH6, and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene) with a synchronous papillary thyroid cancer. Six years later, she developed metachronous breast cancer. Metastatic bone disease developed after 3 years, and the disease burden was due to both breast and thyroid diseases. Despite multiple interventions for both metastatic breast and thyroid diseases, the patient’s metastatic burden progressed and she died of leptomeningeal metastatic disease. Two prior case reports suggested thyroid cancer may be an extraintestinal malignancy of the Lynch syndrome cancer group. Hence, this study examined the genetic relationship between the patient’s known Lynch syndrome and her thyroid cancer. The thyroid cancer tissue showed normal expression of MSH2, suggesting that the tumor was not due to the oncogenic mutation of Lynch syndrome, and molecular analysis confirmed BRAF V600E mutation. Although in this case the thyroid cancer was sporadic, it raises the importance of considering cancer genetics in familial cancer syndromes when other cancers do not fit the criteria of the syndrome. Careful documentation of other malignancies in patients with thyroid cancer and their families would assist in better understanding of any potential association. Appropriate genetic testing will clarify whether a common pathogenic mechanism links seemingly unrelated cancers.

Read the full paper here: https://www.dovepress.com/thyr....oid-cancer-in-a-pati

Learn about our dedicated Lynch Syndrome Center - https://www.dana-farber.org/lynchsyndrome Ramona Lim, MD, gastroenterologist at Dana-Farber/Brigham and Women's Cancer Center, discusses the possible benefits of aspirin for patients with Lynch syndrome as a way to reduce the risk of colorectal cancer.