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MSH6

Monday 29 September 2003

mismatch repair gene

Pathology

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

References

- 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

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