Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma - Abstract

Hereditary papillary renal carcinoma (HPRC) is a highly penetrant hereditary renal cancer syndrome caused by germline missense mutations in the c-MET proto-oncogene.

HPRC is clinically characterized by multiple bilateral papillary renal-cell carcinomas. Here we report a family with a novel missense mutation in c-MET. The original pathology report of four primary kidney cancers (1988-1997) revealed renal-cell carcinoma. A revised report described multiple adenomas and papillary renal-cell carcinomas with focal clear cells and a mixture of type 1 and type 2 pattern, emphasizing the importance of revised pathology examinations in possible hereditary renal-cell carcinomas especially when described before 1997.

Written by:
Wadt KA, Gerdes AM, Hansen TV, Toft BG, Friis-Hansen L, Andersen MK.   Are you the author?
Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.

Reference: Fam Cancer. 2012 Sep;11(3):535-7.
doi: 10.1007/s10689-012-9542-6


PubMed Abstract
PMID: 22717761

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