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Updated: Mar 11, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
COSMIC: somatic cancer genetics at high-resolution
Simon A Forbes1, David Beare2, Harry Boutselakis2
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK saf@sanger.ac.uk.
The Catalogue of Somatic Mutations in Cancer (COSMIC) database provides a comprehensive resource for cancer genetics research. It details millions of mutations, including those related to drug resistance, aiding the study of human cancer.
Area of Science:
- Oncology
- Genetics
- Bioinformatics
Background:
- The Catalogue of Somatic Mutations in Cancer (COSMIC) is a leading resource for cancer genetics.
- It is curated by expert scientists through manual review of scientific publications.
- COSMIC v78 (September 2016) contains extensive data on cancer mutations.
Purpose of the Study:
- To provide a high-resolution resource for exploring genetic targets and trends in human cancer.
- To detail somatic mutations, including coding and non-coding variants, gene fusions, and genomic rearrangements.
- To catalog the genetic basis of drug resistance in cancer.
Main Methods:
- Manual curation of scientific publications by expert scientists.
- Integration of genome-wide sequencing results from a large number of tumors.
- Annotation of various mutation types, including coding, non-coding, gene fusions, copy number segments, expression variants, and methylation data.
Main Results:
- COSMIC v78 includes over 4 million coding mutations from 28,366 tumors and 23,489 publications.
- The database annotates over 13 million non-coding mutations and numerous other genetic alterations.
- It details drug resistance profiles for 20 drugs, identifying 301 unique resistance alleles in 1934 tumors.
Conclusions:
- COSMIC serves as the broadest available database for cancer mutation information.
- The database facilitates research into cancer genetics, drug resistance mechanisms, and therapeutic targets.
- All data within COSMIC is freely accessible to the scientific community.
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