Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant disease caused by germline mutations in DNA mismatch repair genes. The mutational spectrum in these genes appears to be diverse, in both the distribution and the nature of the mutations. However, most described mutation
Modifiers of expression in mutations of mismatch repair gene carriers in hereditary nonpolyposis colorectal cancer
โ Scribed by Jinyun Chen; Jing Zhu; Mala Pande; Joshua Amos; Marsha L. Frazier; Chongjuan Wei
- Book ID
- 107535628
- Publisher
- Current Science Inc.
- Year
- 2006
- Tongue
- English
- Weight
- 119 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1556-3790
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๐ SIMILAR VOLUMES
Excessive incidence of various cancers is a challenging feature of the hereditary-non-polyposis-colorectal-cancer (HNPCC) syndrome. This study estimated the cancer incidences in HNPCC compared with the general population. Individuals in a cohort of 1763 members of 50 genetically diagnosed families w
Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLH1, and GTBP, by using a combination of different methods that included an in vitro synthesized protein assay, single-stran