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Reference

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.

Paper Id
COSP28835
Authors
Barbieri CE,Baca SC,Lawrence MS,Demichelis F,Blattner M,Theurillat JP,White TA,Stojanov P,Van Allen E,Stransky N,Nickerson E,Chae SS,Boysen G,Auclair D,Onofrio RC,Park K,Kitabayashi N,Macdonald TY,Sheikh K,Vuong T,Guiducci C,Cibulskis K,Sivachenko A,Carter SL,Saksena G,Voet D,Hussain WM,Ramos AH,Winckler W,Redman MC,Ardlie K,Tewari AK,Mosquera JM,Rupp N,Wild PJ,Moch H,Morrissey C,Nelson PS,Kantoff PW,Gabriel SB,Golub TR,Meyerson M,Lander ES,Getz G,Rubin MA and Garraway LA
Affiliation
1] Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, New York, USA. [2] Department of Urology, Weill Cornell Medical College, New York, New York, USA. [3].
Journal
Nature genetics 2012;44(6):685-9
ISSN:1546-1718
PUBMED:22610119
Abstract
Prostate cancer is the second most common cancer in men worldwide and causes over 250,000 deaths each year. Overtreatment of indolent disease also results in significant morbidity. Common genetic alterations in prostate cancer include losses of NKX3.1 (8p21) and PTEN (10q23), gains of AR (the androgen receptor gene) and fusion of ETS family transcription factor genes with androgen-responsive promoters. Recurrent somatic base-pair substitutions are believed to be less contributory in prostate tumorigenesis but have not been systematically analyzed in large cohorts. Here, we sequenced the exomes of 112 prostate tumor and normal tissue pairs. New recurrent mutations were identified in multiple genes, including MED12 and FOXA1. SPOP was the most frequently mutated gene, with mutations involving the SPOP substrate-binding cleft in 6-15% of tumors across multiple independent cohorts. Prostate cancers with mutant SPOP lacked ETS family gene rearrangements and showed a distinct pattern of genomic alterations. Thus, SPOP mutations may define a new molecular subtype of prostate cancer.
Paper Status
Curated
Genes Analysed
4710
Mutated Samples
6425
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Genes Samples CDS Mutation AA Mutation
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Non-Mutant Genes Gene Id (COSG)
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Non-Mutant Samples Sample Id (COSS)
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Sample Name Mutation Count
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Sample ID Sample Name ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq