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

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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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The authors declare: No conflict of interest.

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Correspondence to Karin A. W. Wadt.

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Wadt, K.A.W., Gerdes, AM., Hansen, T.V.O. et al. Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma. Familial Cancer 11, 535–537 (2012). https://doi.org/10.1007/s10689-012-9542-6

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