TY - JOUR
T1 - A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer
AU - Chen, Wen Chau
AU - Lin, Shao Chieh
AU - Lee, Jenq Chang
N1 - Funding Information:
The authors thank the family members for their participation in the study. This study was supported by research grant NCKUH 96-075 from the National Cheng Kung University Hospital , Taiwan, Republic of China.
PY - 2011/2
Y1 - 2011/2
N2 - 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.
AB - 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.
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U2 - 10.1016/j.kjms.2010.05.002
DO - 10.1016/j.kjms.2010.05.002
M3 - Article
C2 - 21354521
AN - SCOPUS:79952298225
SN - 1607-551X
VL - 27
SP - 68
EP - 71
JO - Kaohsiung Journal of Medical Sciences
JF - Kaohsiung Journal of Medical Sciences
IS - 2
ER -
