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TCF1

MIM.142410 12q24.2

Thursday 29 January 2004

MIM.142410

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#)

- somatic mutations in

  • 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#


- MIM.142410