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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#)

  • acute myeloid leukemia (#17259933#)

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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