Mismatch Repair Genes hMLH1 and hMSH2 and Colorectal Cancer: A HuGE Review

Refined chromosomal localization of the mismatch repair and hereditary nonpolyposis colorectal cancer genes hMSH2 and hMSH6.

The genomic loci for the mismatch repair genes hMSH2 and hMSH6 were mapped by fluorescence in situ hybridization, analysis of radiation hybrid panel markers, and linkage analysis of syntenic chromosome regions between human and mouse. Both genes were localized to chromosome 2p21, adjacent to the luteinizing hormone/choriogonadotropin receptor gene (LHCGR; 2p21), telomeric to the D2S123 polymorp...

Cell cycle regulation of the human DNA mismatch repair genes hMSH2, hMLH1, and hPMS2.

Hereditary nonpolyposis colorectal cancer is a cancer susceptibility syndrome that has been found to be caused by mutations in any of several genes involved in DNA mismatch repair, including hMSH2, hMLH1, or hPMS2. Recent reports have suggested that hMSH2 and hMLH1 have a role in the regulation of the cell cycle. To determine if these genes are cell cycle regulated, we examined their mRNA and p...

DNA mismatch repair genes and colorectal cancer.

GASTROINTESTINAL CANCER Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants

Background: Germline mutations in the mismatch repair (MMR) genes hMLH1 and hMSH2 can cause hereditary non-polyposis colorectal cancer (HNPCC). However, the functional in vitro analysis of hMLH1 and hMSH2 mutations remains difficult. Aims: To establish an in vitro method for the functional characterisation of hMLH1 and hMSH2 mutations. Methods: hMLH1 and hMSH2 wild type (wt) genes and several m...

Mismatch Repair Protein hMLH1, but not hMSH2, Enhances Estrogen-Induced Apoptosis of Colon Cancer Cells

BACKGROUND Epidemiological studies suggest a protective role of estrogen against colon carcinogenesis; this effect appears to be dependent on mismatch repair (MMR) status. However, the underlying mechanism remains unclear. This study investigated the role of MMR proteins in apoptosis of colon cancer cells in the presence or absence of estrogen. METHODS Two major MMR proteins, human mutL homol...