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

TY - JOUR

T1 - Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma

AU - Wadt, Karin

AU - Gerdes, Anne-Marie

AU - Hansen, Thomas V O

AU - Toft, Birgitte G

AU - Friis-Hansen, Lennart

AU - Andersen, Mette K

PY - 2012/9

Y1 - 2012/9

N2 - 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.

AB - 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.

U2 - 10.1007/s10689-012-9542-6

DO - 10.1007/s10689-012-9542-6

M3 - Journal article

SN - 1389-9600

VL - 11

SP - 535

EP - 537

JO - Familial Cancer

JF - Familial Cancer

IS - 3

ER -