Mutation in the Mismatch Repair Gene Msh6 Causes Cancer Susceptibility

Mutation in the Mismatch Repair Gene Msh6Causes Cancer Susceptibility

Mice carrying a null mutation in the mismatch repair gene Msh6 were generated by gene targeting. Cells that were homozygous for the mutation did not produce any detectable MSH6 protein, and extracts prepared from these cells were defective for repair of single nucleotide mismatches. Repair of 1, 2, and 4 nucleotide insertion/deletion mismatches was unaffected. Mice that were homozygous for the ...

Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.

Endometrial cancer is the most common gynecologic malignancy in the United States and the most frequent extracolonic tumor in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC patients have inherited defects in DNA mismatch repair and the microsatellite instability (MSI) tumor phenotype. Sporadic endometrial cancers also exhibit MSI, usually associated with methylation of the MLH1 promot...

Role of the mismatch repair gene, Msh6, in suppressing genome instability

Cancer risks after endometrial cancer in mismatch repair mutation carriers.

Recent years have seen increasing attention to the management of endometrial cancer risk in families with hereditary nonpolyposis colorectal cancer or Lynch syndrome (HNPCC/LS). Nevertheless, because endometrial cancer is less common and carries a lower mortality (1) than colorectal cancer in mismatch repair gene (MMR) mutation carriers, it may be an afterthought for many providers and patients...

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.

Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma. We report on a case with constitutional mismatch repair deficiency caused by a novel MSH6 mutation leading to a T-cell lymphoma and colonic adenocarcinoma at six and 13 years of age, respectively. A review of the literature on hematologi...