Dataset Information
Whole-Genome and Exome Sequencing in clear-cell Renal Cell Carcinoma (ccRCC)
Ontology highlight
ABSTRACT: Study to evaluate the molecular genetics of ccRCC through integrative analyses of tumors and tumorgrafts using multiple platforms in clinically annotated samples. Genome and exome data for patients giving consent to have the information available on a public, secure, database is being submitted.
OTHER RELATED OMICS DATASETS IN: PRJNA157021PRJNA134015
PROVIDER: phs000491.v1.p1 | EGA |
REPOSITORIES: EGA
Publications
BAP1 loss defines a new class of renal cell carcinoma.
Nature genetics 20120610 7
The molecular pathogenesis of renal cell carcinoma (RCC) is poorly understood. Whole-genome and exome sequencing followed by innovative tumorgraft analyses (to accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitinase, is inactivated in 15% of clear cell RCCs. BAP1 cofractionates with and binds to HCF-1 in tumorgrafts. Mutations disrupting the HCF-1 binding motif impair BAP1-mediated suppressi ...[more]
