Article
Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.
Cancer discovery - 1 Jul 2015
Jafri Mariam, Wake Naomi C, Ascher David B, Pires Douglas E V, Gentle Dean, Morris Mark R, Rattenberry Eleanor, Simpson Michael A, Trembath Richard C, Weber Astrid, Woodward Emma R, Donaldson Alan, Blundell Tom L, Latif Farida, Maher Eamonn R
Abstract excerpt
UNLABELLED: Familial renal cell carcinoma (RCC) is genetically heterogeneous and may be caused by mutations in multiple genes, including VHL, MET, SDHB, FH, FLCN, PTEN, and BAP1. However, most individuals with inherited RCC do not have a detectable germline mutation. To identify novel inherited RCC genes, we undertook exome resequencing studies in a familial RCC kindred and identified a CDKN2B nonsense mutation...
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