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Familial Cancer
Published in: Familial Cancer 3/2012

01-09-2012 | Short Communication

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

Authors: Karin A. W. Wadt, Anne-Marie Gerdes, Thomas V. O. Hansen, Birgitte G. Toft, Lennart Friis-Hansen, Mette K. Andersen

Published in: Familial Cancer | Issue 3/2012

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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.
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Metadata
Title
Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma
Authors
Karin A. W. Wadt
Anne-Marie Gerdes
Thomas V. O. Hansen
Birgitte G. Toft
Lennart Friis-Hansen
Mette K. Andersen
Publication date
01-09-2012
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2012
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-012-9542-6

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