A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer
β Scribed by Seo-Jin Park; Kyung-A. Lee; Tae Sung Park; Nam Kyu Kim; Jaewoo Song; Bo-Young Kim; Jong Rak Choi
- Book ID
- 113513314
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 245 KB
- Volume
- 182
- Category
- Article
- ISSN
- 0165-4608
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π SIMILAR VOLUMES
Mismatch repair genes MSH2 and MLH1 are considered to be the two major genes that are responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are pred
Communicated by Sauiu L.C. Woo We examined 18 unrelated individuals who have colorectal cancer or cancers associated with the HNPCC syndrome and have a family history of cancer for mutations in exon 13 of the hMSH2 gene. Two of the 18 individuals had the same previously unreported single-base delet
## Abstract Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal disorder caused by mutations in DNA mismatch repair (MMR) genes. Tumors of the HNPCCβspectrum are associated with microsatellite instability (MSI) and loss of MMR protein expression. Lymphomas are not considered to be HNP