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 a...
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| Format: | Article |
| Language: | English |
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Wiley
2011-02-01
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| Series: | Kaohsiung Journal of Medical Sciences |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1607551X10000276 |
| _version_ | 1819229594618691584 |
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| author | Wen-Chau Chen Shao-Chieh Lin Jenq-Chang Lee 陳文超 林劭潔 李政昌 |
| author_facet | Wen-Chau Chen Shao-Chieh Lin Jenq-Chang Lee 陳文超 林劭潔 李政昌 |
| author_sort | Wen-Chau Chen |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-23T11:15:40Z |
| format | Article |
| id | doaj.art-e852ee09381f4b168124d4949dd7d5dd |
| institution | Directory Open Access Journal |
| issn | 1607-551X |
| language | English |
| last_indexed | 2024-12-23T11:15:40Z |
| publishDate | 2011-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Kaohsiung Journal of Medical Sciences |
| spelling | doaj.art-e852ee09381f4b168124d4949dd7d5dd2022-12-21T17:49:14ZengWileyKaohsiung Journal of Medical Sciences1607-551X2011-02-01272687110.1016/j.kjms.2010.05.002A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancerWen-Chau Chen0Shao-Chieh Lin1Jenq-Chang Lee2陳文超3林劭潔4李政昌5Department of Emergency Medicine, National Cheng Kung University Hospital, Tainan, TaiwanDivision of Colon and Rectal Surgery, Department of Surgery, National Cheng Kung University Medical College and Hospital, Tainan, TaiwanDivision of Colon and Rectal Surgery, Department of Surgery, National Cheng Kung University Medical College and Hospital, Tainan, TaiwanDepartment of Emergency Medicine, National Cheng Kung University Hospital, Tainan, TaiwanDivision of Colon and Rectal Surgery, Department of Surgery, National Cheng Kung University Medical College and Hospital, Tainan, TaiwanDivision of Colon and Rectal Surgery, Department of Surgery, National Cheng Kung University Medical College and Hospital, Tainan, TaiwanHereditary 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.http://www.sciencedirect.com/science/article/pii/S1607551X10000276HNPCCMismatch repairMSH2 geneMutation |
| spellingShingle | Wen-Chau Chen Shao-Chieh Lin Jenq-Chang Lee 陳文超 林劭潔 李政昌 A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer Kaohsiung Journal of Medical Sciences HNPCC Mismatch repair MSH2 gene Mutation |
| title | A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer |
| title_full | A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer |
| title_fullStr | A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer |
| title_full_unstemmed | A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer |
| title_short | A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer |
| title_sort | novel nonsense mutation of msh2 gene in a taiwanese family with hereditary nonpolyposis colorectal cancer |
| topic | HNPCC Mismatch repair MSH2 gene Mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1607551X10000276 |
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