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

Wen Chau Chen; Shao Chieh Lin; Jenq Chang Lee

doi:10.1016/j.kjms.2010.05.002

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

Wen Chau Chen
, Shao Chieh Lin
, Jenq Chang Lee

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	68-71
Number of pages	4
Journal	Kaohsiung Journal of Medical Sciences
Volume	27
Issue number	2
DOIs	https://doi.org/10.1016/j.kjms.2010.05.002
Publication status	Published - 2011 Feb

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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General Medicine

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10.1016/j.kjms.2010.05.002

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

abstract = "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.",

author = "Chen, \{Wen Chau\} and Lin, \{Shao Chieh\} and Lee, \{Jenq Chang\}",

note = "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. ",

year = "2011",

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doi = "10.1016/j.kjms.2010.05.002",

language = "English",

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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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AN - SCOPUS:79952298225

SN - 1607-551X

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EP - 71

JO - Kaohsiung Journal of Medical Sciences

JF - Kaohsiung Journal of Medical Sciences

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ER -

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

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