EVALUATION OF MLH1 AND MSH2 GENE MUTATIONS IN A SUBSET OF IRANIAN FAMILIES WITH HEREDITARY NONPOLYPOSIS COLORECTAL CANCER (HNPCC)

摘要: Hereditary nonpolyposis colorectal cancer is the most common form of hereditary cancers accounting for 5 to 10% all colon carcinoma. It inherited in an autosomal dominant mode and caused by mutations mismatch repair genes (MMR) chiefly MLH1 MSH2. The lifetime risk affected persons 80%. Screening, prevention strategies consequently treatment options will be improved understanding genetic basis this disorder. aim study was assess MSH2 a subset Iranian HNPCC patients. families that fulfill Amsterdam criteria were selected as families. Genomic DNA extracted from peripheral blood samples detected PCR-single strand conformation polymorphism (PCR-SSCP) sequencing techniques. found 20 cases. Of these mutations, 14 6 thus gene had higher mutation rate than Eighteen out our population previously reported two novel. Our results demonstrated range well involved different one region other characterizing could very helpful diagnosis at individuals.