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The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients

Cancer Causes and Control Dec 05, 2018

Bernstein-Molho R, et al. - In order to evaluate whether breast cancer (BC) should be considered within the spectrum of tumors in Lynch syndrome (LS), researchers examined the rates of the recurring Ashkenazi Jewish (AJ) mutations in the MSH6 gene (c.3984_3987dupGTCA and c.3959_3962delCAAG) in AJ cases with seemingly sporadic BC or hereditary breast and ovarian cancer (HBOC) phenotype, who were negative for the founder AJ BRCA1/2 mutations. For the AJ mutations in MSH6, they genotyped 1016 AJ individuals (815 BC cases, 132 ovarian cancer cases, and 69 with more than one cancer), affected with BC ≤ 70 years and/or ovarian cancer at any age who were counseled, genotyped and tested negative for the BRCA1/2 founder mutations between January 2010 and February 2018 at the Oncogenetics unit, Sheba Medical Center. They identified five carriers (0.49%) of the recurring AJ mutations in MSH6, all having BC, and two had personal history of additional cancers (pancreatic, endometrial, colorectal). Outcomes thus emphasize expanding the spectrum of genotyped mutations in AJ BC patients with a personal or family history of LS-related cancers.
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