Cancer risk prediction for mismatch repair germline mutation in Chinese hereditary non-polyposis colorectal cancer pedigree

Abstract

Objective To investigate the cancer risk prediction by means of mismatch repair (MMR) germline mutation test in Chinese hereditary non-polyposis colorectal cancer (HNPCC) pedigree.Methods A detail pedigree analysis about the onset of cancer was carried out in 316 subjects from 43 Chinese HNPCC families,and the results were statistically analyzed.Results ①Two hundred and sixty-three subjects aged above 20 years were identified as mutation.Among whom,144 were mutation carriers and 119 were non-mutation carriers.The prevalence of tumors referred to HNPCC was 9.03%(85/144) in mutation carries and 2.52% (3/119) in non-mutation carriers with significant difference (P＜0.01).②Nevertheless,male subjects had a higher colorectal cancer risk than female subjects in 144 mutation carriers aged above 20 years with significant difference [72.00%(54/75) vs.44.93%(31/69),χ~2=10.89,P＜0.01].③The risk for HNPCC associated tumor was increasing with aging.Conclusions In the HNPCC families,the mutation carriers are the high risk members for cancers related to HNPCC,which can be predicted by means of MMR germline mutation test. Key words: Colorectal neoplasms; hereditary nonpolyposis; DNA mismatch repair; Risk factors