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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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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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COSMIC: the Catalogue Of Somatic Mutations In Cancer.

John G Tate1, Sally Bamford1, Harry C Jubb1,2

  • 1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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|October 30, 2018
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Summary
This summary is machine-generated.

The Catalogue Of Somatic Mutations In Cancer (COSMIC) database provides comprehensive data on genetic alterations in human cancers. It includes coding and non-coding mutations, gene fusions, and copy-number variants, aiding cancer research and drug discovery.

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Area of Science:

  • Genomics
  • Cancer Biology
  • Bioinformatics

Background:

  • Somatic mutations are key drivers of human cancer.
  • Comprehensive databases are essential for understanding cancer genetics.
  • The Catalogue Of Somatic Mutations In Cancer (COSMIC) is a leading resource.

Purpose of the Study:

  • To present the latest release of the COSMIC database (v86).
  • To highlight the expanded scope of genetic alterations covered by COSMIC.
  • To introduce new features for exploring mutation impacts and druggability.

Main Methods:

  • Manual curation of somatic mutations from scientific literature.
  • Inclusion of diverse genetic mechanisms: coding, non-coding, fusions, CNVs, drug resistance.
  • Development of COSMIC-3D for structural and functional impact analysis.
  • Integration of the Cancer Gene Census (CGC) with functional descriptions.

Main Results:

  • COSMIC v86 contains nearly 6 million coding mutations from 1.4 million tumor samples.
  • The database covers a wide spectrum of genetic alterations promoting cancer.
  • COSMIC-3D enables visualization of mutations in protein structures.
  • The Cancer Gene Census now includes 719 genes with functional descriptions related to cancer hallmarks.

Conclusions:

  • COSMIC is an indispensable, continuously updated resource for cancer genomics research.
  • New features enhance the understanding of mutation consequences and therapeutic potential.
  • The integration of structural and functional data advances precision oncology efforts.