Ontology highlight
ABSTRACT:
SUBMITTER: Farley MN
PROVIDER: S-EPMC4211292 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Farley Megan N MN Schmidt Laura S LS Mester Jessica L JL Pena-Llopis Samuel S Pavia-Jimenez Andrea A Christie Alana A Vocke Cathy D CD Ricketts Christopher J CJ Peterson James J Middelton Lindsay L Kinch Lisa L Grishin Nick N Merino Maria J MJ Metwalli Adam R AR Xing Chao C Xie Xian-Jin XJ Dahia Patricia L M PLM Eng Charis C Linehan W Marston WM Brugarolas James J
Molecular cancer research : MCR 20130524 9
<h4>Unlabelled</h4>Renal cell carcinoma (RCC) clusters in some families. Familial RCC arises from mutations in several genes, including the von Hippel-Lindau (VHL) tumor suppressor, which is also mutated in sporadic RCC. However, a significant percentage of familial RCC remains unexplained. Recently, we discovered that the BRCA1-associated protein-1 (BAP1) gene is mutated in sporadic RCC. The BAP1 gene encodes a nuclear deubiquitinase and appears to be a classic two-hit tumor suppressor gene. So ...[more]