Reference Overview - PMID22622578

Overview

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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
6135
Mutations
10235

Mutations

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Genes Samples CDS Mutation AA Mutation

Non-Mutant Genes

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Non-Mutant Genes Gene Id (COSG)

Non-Mutant Samples

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Non-Mutant Samples Sample Id (COSS)

Mutated Samples

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Sample Name Mutation Count

Non-Coding mutation

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