Mismatch repair and cancer

Mismatch repair defects in cancer.

Post-replicative mismatch repair in humans utilises the hMSH2, hMSH6, hMSH3, hMLH1 and hPMS2 genes and possibly the newly identified hMLH3 gene. Recently, a link has been established between hMSH6 mutations and 'atypical' hereditary non-polyposis colon cancer (HNPCC) with an increased incidence of endometrial cancers. To satisfy the need for a diagnostic test capable of differentiating between ...

DNA mismatch repair, microsatellite instability and cancer.

Mismatch (MMR) repair system plays a significant role in restoration of stability in the genome. Mutations in mismatch repair genes hamper their activity thus bring about a defect in mismatch repair (MMR) mechanism thereby conferring instability in the microsatellite sequences of both the coding and non-coding regions of the genome. Mutated mismatch repair genes result in the expansion or contr...

DNA mismatch repair genes and colorectal cancer.

Heterogenous mismatch-repair status in colorectal cancer

BACKGROUND Immunohistochemical staining for mismatch repair proteins is efficient and widely used to identify mismatch repair defective tumors. The tumors typically show uniform and widespread loss of MMR protein staining. We identified and characterized colorectal cancers with alternative, heterogenous mismatch repair protein staining in order to delineate expression patterns and underlying me...

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...