Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
作者： Yvonne MC Hendriks , Anja Wagner , Hans Morreau , Fred Menko , Astrid Stormorken
DOI: 10.1053/J.GASTRO.2004.03.068
关键词:
摘要: Background & Aims: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative risk developing cancer in large series MSH6 mutation carriers. Methods: Mutation analysis performed 20 families with germline MSH6. We compared risks between and MLH1/MSH2 Microsatellite instability (MSI) immunohistochemistry (IHC) were available tumors. Results: A total 146 carriers identified. In these carriers, for 69% men, 30% women, 71% endometrial at 70 years age. all HNPCC-related tumors significantly lower than MLH1 or MSH2 (P = 0.002). female 0.0049) higher 0.02) male but difference not significant 0.0854). MSI had sensitivity 86% predicting MMR defect. IHC 90% Conclusions: recommend starting colonoscopic surveillance from age 30 years. Prophylactic hysterectomy might be considered older 50 are sensitive tools identify eligible analysis.
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