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Rigshospitalet - a part of Copenhagen University Hospital
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Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma

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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.
Original languageEnglish
JournalFamilial Cancer
Volume11
Issue number3
Pages (from-to)535-7
Number of pages3
ISSN1389-9600
DOIs
Publication statusPublished - 2012

ID: 36601109