Open Access一台灣遺傳性非瘜肉性大腸直腸癌家族之MSH2基因新無意義突變點
Author(s) -
Chen WenChau,
Lin ShaoChieh,
Lee JenqChang
Publication year - 2011
Publication title -
the kaohsiung journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.439
H-Index - 36
eISSN - 2410-8650
pISSN - 1607-551X
DOI - 10.1016/j.kjms.2010.05.002
Subject(s) - medicine , msh2 , mlh1 , nonsense mutation , germline mutation , colorectal cancer , mutation , dna mismatch repair , cancer , cancer research , gene , genetics , missense mutation , biology
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.