Pathology
germline mutations in
- familial hepatic adenomatosis is associated with biallelic hepatocyte nuclear factor 1alpha (HNF-1alpha) inactivation (14598263)
- maturity-onset diabetes of the young type III (MODY3) (MIM.600496)
- insulin-dependent diabetes (IDDM) (MIM.222100)
- mutations in insulin resistance susceptibility (MIM.125853)
monoallelic germline mutation of TCF1 (HNF1alpha) in clear cell renal carcinoma (15649945)
- hepatic adenomas (50%) (12355088)
- colorectal cancer with microsatellite instability (12730871)
- endometrial carcinomas (11%) (15326484)
References
Rebouissou S, Vasiliu V, Thomas C, Bellanne-Chantelot C, Bui H, Chretien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J. Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. Hum Mol Genet. 2005 Mar 1;14(5):603-14. PMID: 15649945