COSMIC: somatic cancer genetics at high-resolution

被引：1440

作者：

Forbes, Simon A. ^{[1
]}

Beare, David ^{[1
]}

Boutselakis, Harry ^{[1
]}

Bamford, Sally ^{[1
]}

Bindal, Nidhi ^{[1
]}

Tate, John ^{[1
]}

Cole, Charlotte G. ^{[1
]}

Ward, Sari ^{[1
]}

Dawson, Elisabeth ^{[1
]}

Ponting, Laura ^{[1
]}

Stefancsik, Raymund ^{[1
]}

Harsha, Bhavana ^{[1
]}

Kok, Chai Yin ^{[1
]}

Jia, Mingming ^{[1
]}

Jubb, Harry ^{[1
]}

Sondka, Zbyslaw ^{[1
]}

Thompson, Sam ^{[1
]}

De, Tisham ^{[1
]}

Campbell, Peter J. ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge CB10 1SA, England

来源：

NUCLEIC ACIDS RESEARCH | 2017年 / 45卷 / D1期

基金：

英国惠康基金;

关键词：

GENOME; LANDSCAPE; DATABASE;

D O I：

10.1093/nar/gkw1121

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

COSMIC, the Catalogue of Somatic Mutations in Cancer (http://cancer.sanger.ac.uk) is a high-resolution resource for exploring targets and trends in the genetics of human cancer. Currently the broadest database of mutations in cancer, the information in COSMIC is curated by expert scientists, primarily by scrutinizing large numbers of scientific publications. Over 4 million coding mutations are described in v78 (September 2016), combining genome-wide sequencing results from 28 366 tumours with complete manual curation of 23 489 individual publications focused on 186 key genes and 286 key fusion pairs across all cancers. Molecular profiling of large tumour numbers has also allowed the annotation of more than 13 million non-coding mutations, 18 029 gene fusions, 187 429 genome rearrangements, 1 271 436 abnormal copy number segments, 9 175 462 abnormal expression variants and 7 879 142 differentially methylated CpG dinucleotides. COSMIC now details the genetics of drug resistance, novel somatic gene mutations which allow a tumour to evade therapeutic cancer drugs. Focusing initially on highly characterized drugs and genes, COSMIC v78 contains wide resistance mutation profiles across 20 drugs, detailing the recurrence of 301 unique resistance alleles across 1934 drug-resistant tumours. All information from the COSMIC database is available freely on the COSMIC website.

引用

页码：D777 / D783

页数：7

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