Article
Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees.
Cancer research - 1 Sept 1997
Weber T K, Conlon W, Petrelli N J, Rodriguez-Bigas M, Keitz B, Pazik J, Farrell C, O'Malley L, Oshalim M, Abdo M, Anderson G, Stoler D, Yandell D
Abstract excerpt
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer syndrome characterized by early age of onset colorectal cancer (mean 45 years) as well as endometrial, urinary tract, and upper gastrointestinal adenocarcinomas. The HNPCC phenotype has been shown to segregate with germline mutations in the human homologues of the DNA mismatch repair genes MSH2, MLH1, PMS1, and PMS2. However, the...
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