This tab shows an overview of the selected study/paper [more details]
Reference

Melanoma genome sequencing reveals frequent PREX2 mutations.

Paper Id
COSP28834
Authors
Berger MF,Hodis E,Heffernan TP,Deribe YL,Lawrence MS,Protopopov A,Ivanova E,Watson IR,Nickerson E,Ghosh P,Zhang H,Zeid R,Ren X,Cibulskis K,Sivachenko AY,Wagle N,Sucker A,Sougnez C,Onofrio R,Ambrogio L,Auclair D,Fennell T,Carter SL,Drier Y,Stojanov P,Singer MA,Voet D,Jing R,Saksena G,Barretina J,Ramos AH,Pugh TJ,Stransky N,Parkin M,Winckler W,Mahan S,Ardlie K,Baldwin J,Wargo J,Schadendorf D,Meyerson M,Gabriel SB,Golub TR,Wagner SN,Lander ES,Getz G,Chin L and Garraway LA
Affiliation
The Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
Journal
Nature 2012;485(7399):502-6
ISSN:1476-4687
PUBMED:22622578
Abstract
Melanoma is notable for its metastatic propensity, lethality in the advanced setting and association with ultraviolet exposure early in life. To obtain a comprehensive genomic view of melanoma in humans, we sequenced the genomes of 25 metastatic melanomas and matched germline DNA. A wide range of point mutation rates was observed: lowest in melanomas whose primaries arose on non-ultraviolet-exposed hairless skin of the extremities (3 and 14 per megabase (Mb) of genome), intermediate in those originating from hair-bearing skin of the trunk (5-55 per Mb), and highest in a patient with a documented history of chronic sun exposure (111 per Mb). Analysis of whole-genome sequence data identified PREX2 (phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2)--a PTEN-interacting protein and negative regulator of PTEN in breast cancer--as a significantly mutated gene with a mutation frequency of approximately 14% in an independent extension cohort of 107 human melanomas. PREX2 mutations are biologically relevant, as ectopic expression of mutant PREX2 accelerated tumour formation of immortalized human melanocytes in vivo. Thus, whole-genome sequencing of human melanoma tumours revealed genomic evidence of ultraviolet pathogenesis and discovered a new recurrently mutated gene in melanoma.
Paper Status
Curated
Genes Analysed
6133
Mutated Samples
44
Total No. of Samples
132
This tab shows genes with mutations in the selected study/paper [more details]
Genes Samples CDS Mutation AA Mutation
This tab shows genes without mutations in the selected study/paper [more details]
Non-Mutant Genes Gene Id (COSG)
This tab shows samples without mutations in the selected study/paper [more details]
Non-Mutant Samples Sample Id (COSS)
This tab shows mutated samples in the selected study/paper [more details]
Sample Name Mutation Count
This tab shows non coding variant in the selected study/paper [more details]
Sample ID Sample Name ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq
This tab shows the copy number variation data for this study. Only variants (classified as gain or loss) are listed. [more details]
CNV Gene Sample Position Minor Allele Copy Number Average Ploidy

1. N/A represents cases where average ploidy value is not available( mostly ICGC samples). For some TCGA samples where minor allele information is not available the average ploidy value could not be calculated.

2. For TCGA samples, Ascat algorithm is used to calculate the average ploidy.

3. For CGP samples, Picnic algorithm is used to calculate the average ploidy.

Type
This tab shows a table of count of samples having gain or loss for all genes [more details]
Gene Gain Samples Loss Samples Samples Tested
This tab shows the fusion mutations observed in this sample [more details]
Gene Sample Name Id Sample(COSS) CDS Mutation Somatic status Zygosity Validated Type