Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma
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Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma. / Wadt, Karin; Gerdes, Anne-Marie; Hansen, Thomas V O; Toft, Birgitte G; Friis-Hansen, Lennart; Andersen, Mette K.
I: Familial Cancer, Bind 11, Nr. 3, 2012, s. 535-7.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
Y1 - 2012
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
VL - 11
SP - 535
EP - 537
JO - Familial Cancer
JF - Familial Cancer
SN - 1389-9600
IS - 3
ER -
ID: 48450201