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