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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

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.
OriginalsprogEngelsk
TidsskriftFamilial Cancer
Vol/bind11
Udgave nummer3
Sider (fra-til)535-7
Antal sider3
ISSN1389-9600
DOI
StatusUdgivet - 2012

ID: 48450201