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Monday 29 September 2003

mismatch repair gene


Definition : MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6). The MSH6 protein is a member of the Mutator S (MutS) family of proteins that are involved in DNA damage repair.

Defects in hMSH6 are associated with atypical hereditary nonpolyposis colorectal cancer not fulfilling the Amsterdam criteria for HNPCC. hMSH6 mutations have also been linked to endometrial cancer and the development of endometrial carcinomas.


- MSH6 protein loss in adrenal cortical carcinoma. Lymphs and endothelial cells strongly positive.


- hereditary nonpolyposis colorectal cancer (HNPCC )
- Turcot syndrome (16000562)
- neurofibromatosis type I (16283678)
- susceptibility to endometrial carcinomas
- medulloblastoma (17259933)
- leukemias (9510473)


- Scott RH, Mansour S, Pritchard-Jones K, Kumar D, MacSweeney F, Rahman N. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat Clin Pract Oncol. 2007 Feb;4(2):130-4. PMID: 17259933

- Hosoya N, Hangaishi A, Ogawa S, Miyagawa K, Mitani K, Yazaki Y, Hirai H. Frameshift mutations of the hMSH6 gene in human leukemia cell lines. Jpn J Cancer Res. 1998 Jan;89(1):33-9. PMID: 9510473