EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer.

Evaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies

Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...

Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families

Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC) syndrome hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome (LS). Identification of these patients are critical as they are at substantially increased risk of developing multiple primary tumors, mainly colorectal ...

ارتباط پلی مورفیسم C>T p757lدر ژن Exo1 و ریسک ابتلا به سرطان کلورکتال غیر ارثی در یک جمعیت از ایران

Introduction & Objective: One candidate gene for colorectal cancer susceptibility is exonuclease1 (EXO1) .It is a member of RAD2 nuclease family. It plays a main role in mismatch repair. EXO1 acts also in DNA replication and recombination. Single nucleotide polymorphisms (SNPs) are shown to be related with cancer incidence. The aim of the present study was to examine the association between P...

Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is a genetically heterogeneous disorder caused by germ-line mutations in one of several DNA mismatch repair (MMR) genes, most commonly in hMSH2 and hMLH1. Human exonuclease 1 (hExo1) possesses both 5'exonuclease and flap endonuclease activities and plays a role in DNA repair, recombination, and replication. The enzyme interacts with MMR proteins...