A HNPCC(Hereditary Nonpolyposis Colorectal Cancer) Family with Germline Mutation of Mismatch Repair Gene

Abstract

A HNPCC (Hereditary N onpolyposis Colo rectal Cancer) family with a germline mutation of mismatch repair gene was reported. Two base pair deletion was detected at codon 568-569 in exon 11 of hMSH2 gene. The proband of this family was a 21-year-old male who had an advanced sigmoid colon cancer with high aggregation of cancers, in his family. His maternal grandmother developed colon and ureteral cancers, and his mother developed colon and endometrial cancers. His maternal aunt also developed a colon cancer. Genetic testing of mismatch repair genes inclusive of hMSH2 and hMLHJ was performed to five family members with informed consents. Germline mutations of hMSH2 were recognized in three affected members and also in two of the asymptomatic family members, younger brother·of the pro band and a sun of affected aunt.