Introduction The purpose of this study is to determine the clinical features of comorbid cancers by gene (MLH1, MSH2, MSH6, PMS2, EPCAM) in patients diagnosed with Lynch syndrome (LS).
Methods A multipanel NGS (oncorisk®) test for 56 cancer predisposition genes was performed in patients diagnosed with cancer at an early age or suspected of having an inherited cancer syndrome based on family history. Lynch syndrome associated genes were found in 112 patients. A medical record review was performed to examine the clinical features of the various cancers diagnosed in the patients.
Results Among a total of 112 patients diagnosed with Lynch syndrome, 36 (32.14%) patients were MLH1 variants, 38 (33.92%) patients had mutation in the MSH2 gene. And 16 (14.28%) patients had mutation in the MSH6 gene, 15 (13.39%) patients were PMS2. Pathogenic MLH1 and MSH2 variants caused high penetrance dominant cancer syndromes sharing similar colorectal, endometrial cancer risks, but pathogenic MSH6, PMS2 variants caused high penetrance endometrial, ovary cancers. Older MSH2 variant carriers had higher risk of cancers of the urinary tract.
Conclusion/Implications MLH1 and MSH2 are the genes with the highest number of mutations among the patients, with MLH1 being associated with a higher incidence of colorectal cancer, while MSH6, PMS2, and EPCAM are associated with a higher incidence of gynecologic cancer.
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