Mutation spectrum in HNPCC in the Israeli population.

摘要: Hereditary non-polyposis colon cancer is caused by mutations in DNA mismatch repair genes. The mutation spectrum the Israeli population poorly documented except for c.1906G>C Ashkenazi founder hMSH2 gene. To report our experience HNPCC screening, detected and clinical features among a cohort of patients. Diagnostic work-up was done multi-step process guided ethnic information. Tumors suspected patients were tested microsatellite instability immunohistochemistry. Based on tumor analyses, we proceeded to screening DHPLC followed sequence analysis multiplex ligase dependent probe amplification. Jews first mutation. Of 240 families, 24, including Arabs from different origins, positive. All tumors that lost expression proteins also showed instability. There evidence involvement (15) hMLH1 (6) hMSH6 (3) Mutations identified 17/24 (71%) patients: 6 families harbored Eleven other (2 nonsense, 3 splice site small deletions) detected. Three are novel. No gross deletions or insertions This characterizes profile Israel. Tumor testing indicated main MMR genes involved, broad.