A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease predisposing to the development of colorectal cancers and several other malignancies (endometrium, ovaries, stomach, small bowel, hepatobiliary, and urinary tract). HNPCC is caused by germline mutations in any of the mismatch repair genes. Mutations in MLH1 and MSH2 account for almost 90% of all identified ones. Here, we report a Taiwanese family with HNPCC and mutation analysis revealed a novel nonsense mutation (S611X) in MSH2 gene.

摘要遺傳性非瘜肉性大腸直腸癌是一體染色體顯性遺傳疾病，病人及家族成員除大腸直腸癌外，常合併子宮內膜癌、卵巢癌、胃癌、小腸癌、肝膽囊系統及泌尿道系統癌。DNA 錯誤配對修補基因的突變是造成遺傳性非瘜肉性大腸直腸癌的原因，其中90%患者可找到MSH2或MLH1基因的突變。本篇報告一台灣遺傳性非瘜肉性大腸直腸癌家族之MSH2新基因突變點(S611X)。