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International Journal of Colorectal Disease

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01-08-2007 | Original Article

A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancer

Authors: Duo Zheng, Tiegang Li, Xiaoping Liu, Weixin Hu, Hanchun Chen, Yongjia Yang

Published in: International Journal of Colorectal Disease | Issue 8/2007

Abstract

Background and aims

Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common hereditary colon cancer syndrome accounting for 1–5% of all colorectal cancer cases. Germline mutations in DNA mismatch repair (MMR) genes are associated with the clinical phenotype of HNPCC. Defects in the MSH2 gene may account for about 40% of HNPCC cases including nucleotide substitutions, deletions and insertions. Only a few mutations were reported in Chinese families. This study was performed to identify the disease-causing gene mutation(s) and conduct pre-symptomatic diagnosis in a Chinese family with HNPCC.

Materials and methods

Mutation analysis in MLH1 and MSH2 followed by pre-symptomatic diagnosis in MSH2 was performed on genomic DNA isolated from the family members.

Results

A novel duplication mutation of four nucleotides in exon 7 of MSH2 (MSH2: c.1216_1219dupCGAC) resulting in a premature stop 10 codons downstream in MSH2 (p.L407fsX417) was found. The mutation was associated with HNPCC and an asymptomatic carrier was found in the family.

Conclusion

HNPCC in a Chinese family is associated with a novel mutation in the MSH2 gene (MSH2: c.1216_1219dupCGAC).

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Title: A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancer
Authors: Duo Zheng
Tiegang Li
Xiaoping Liu
Weixin Hu
Hanchun Chen
Yongjia Yang
Publication date: 01-08-2007
Publisher: Springer-Verlag
Published in: International Journal of Colorectal Disease / Issue 8/2007
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI: https://doi.org/10.1007/s00384-006-0253-z

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancer

Abstract

Background and aims

Materials and methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background and aims

Materials and methods

Results

Conclusion

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