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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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COSMIC: High-Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer.

S A Forbes1, D Beare1, N Bindal1

  • 1Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.

Current Protocols in Human Genetics
|October 12, 2016
PubMed
Summary
This summary is machine-generated.

The COSMIC database provides expert-curated information on millions of somatic mutations in human cancer. It covers coding and non-coding mutations, copy-number aberrations, and gene expression variants to advance cancer research.

Keywords:
COSMICcancerdatabasegeneticsgenomicsmutationsomatic

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Area of Science:

  • Genomics
  • Oncology
  • Bioinformatics

Background:

  • COSMIC is a comprehensive, expert-curated database for human cancer somatic mutations.
  • Recent releases detail over 4 million coding mutations across all cancer types.
  • The database includes extensive annotations for key cancer genes.

Purpose of the Study:

  • To describe the COSMIC database, its scope, and its utility for cancer research.
  • To detail the graphical website interface for accessing and analyzing mutation data.
  • To provide an overview of alternative methods for database access and download.

Main Methods:

  • Expert curation of somatic mutations from human cancer.
  • Integration of data from major cancer genome consortia and literature.
  • Hand curation of over 22,000 gene-specific literature publications.

Main Results:

  • COSMIC v8 (2016) includes over 4 million coding mutations and 10 million non-coding mutations.
  • The database encompasses 1 million copy-number aberrations and 9 million gene-expression variants.
  • Includes nearly 8 million differentially methylated CpGs.

Conclusions:

  • COSMIC offers a vast, integrated resource for understanding cancer genetics.
  • The database facilitates research into molecular mechanisms across diverse cancer types.
  • Provides a detailed web interface and alternative access methods for researchers.