A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma

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 tha...

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Veröffentlicht in:	Molecular cancer research 2013-09, Vol.11 (9), p.1061-1071
Hauptverfasser:	Farley, Megan N, Schmidt, Laura S, Mester, Jessica L, Pena-Llopis, Samuel, Pavia-Jimenez, Andrea, Christie, Alana, Vocke, Cathy D, Ricketts, Christopher J, Peterson, James, Middelton, Lindsay, Kinch, Lisa, Grishin, Nick, Merino, Maria J, Metwalli, Adam R, Xing, Chao, Xie, Xian-Jin, Dahia, Patricia L M, Eng, Charis, Linehan, W Marston, Brugarolas, James
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Amino Acid Sequence Carcinoma, Renal Cell - diagnosis Carcinoma, Renal Cell - genetics Carcinoma, Renal Cell - pathology Evolution, Molecular Female Germ-Line Mutation Humans Kidney Neoplasms - genetics Kidney Neoplasms - pathology Male Middle Aged Molecular Sequence Data Mutation, Missense Sequence Analysis, DNA Tumor Suppressor Proteins - chemistry Tumor Suppressor Proteins - genetics Tumor Suppressor Proteins - metabolism Ubiquitin Thiolesterase - chemistry Ubiquitin Thiolesterase - genetics Ubiquitin Thiolesterase - metabolism
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