Evidence map›Paper›PMID 20164919›Full record

ArticleNature2010

Signatures of mutation and selection in the cancer genome.

Graham R Bignell, Chris D Greenman, Helen Davies, Adam P Butler, Sarah Edkins, Jenny M Andrews, Gemma Buck, Lina Chen, David Beare, Calli Latimer and 12 more

Open access · hybridAbstract read
In one paragraph

Article in Nature, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 418 papers.

0numbers the graph read from it
0cells of the map it votes in
418citing papers in PubMed
30.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

418 citing papers in PubMed, 722 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Nucleotide Substitution Biases in Related Cancer Driver Genes.International journal of molecular sciences · 2025
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  7. B-cell-specificBlood neoplasia · 2025
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  9. Panorama of Chromosomal Instability in Lung Cancer.medRxiv : the preprint server for health sciences · 2025
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. A Japanese family of hereditary diffuse gastric cancer with a germline pathogenic variant of CTNN1A detected via comprehensive genome profiling.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2025
    Article
  19. Article
  20. Article

358 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 2 institutions in 2 countries.

Graham R BignellWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Chris D Greenman
Helen Davies
Adam P Butler
Sarah Edkins
Jenny M Andrews
Gemma Buck
Lina Chen
David Beare
Calli Latimer
Sara Widaa
Jonathon Hinton
Ciara Fahey
Beiyuan Fu
Sajani Swamy
Gillian L Dalgliesh
Bin T Teh
Panos Deloukas
Fengtang Yang
Peter J Campbell
P Andrew Futreal
Michael R Stratton
Wellcome Sanger Institute · GBVan Andel Institute · US

Funding

Targeting Genomic Instability and Evolution in MyelomaP01CA155258 · NCI · DANA-FARBER CANCER INST · PI Jill Corre · 2011 to 2026
$32.5M
NCI NIH HHS P01 CA155258Wellcome Trust 077012/Z/05/ZWellcome Trust 088340Wellcome Trust 093867
6 · The paper itself

Abstract

The cancer genome is moulded by the dual processes of somatic mutation and selection. Homozygous deletions in cancer genomes occur over recessive cancer genes, where they can confer selective growth advantage, and over fragile sites, where they are thought to reflect an increased local rate of DNA breakage. However, most homozygous deletions in cancer genomes are unexplained. Here we identified 2,428 somatic homozygous deletions in 746 cancer cell lines. These overlie 11% of protein-coding genes that, therefore, are not mandatory for survival of human cells. We derived structural signatures that distinguish between homozygous deletions over recessive cancer genes and fragile sites. Application to clusters of unexplained homozygous deletions suggests that many are in regions of inherent fragility, whereas a small subset overlies recessive cancer genes. The results illustrate how structural signatures can be used to distinguish between the influences of mutation and selection in cancer genomes. The extensive copy number, genotyping, sequence and expression data available for this large series of publicly available cancer cell lines renders them informative reagents for future studies of cancer biology and drug discovery.

Indexed as

Gene DeletionHomozygoteCell Line, TumorChromosome Fragile SitesChromosomes, HumanDNA Copy Number VariationsDNA Mutational AnalysisGene DosageGenes, NeoplasmGenes, RecessiveGenome, HumanHumansModels, GeneticNeoplasmsOligonucleotide Array Sequence AnalysisPhysical Chromosome Mapping

Identifiers

PMID20164919
PMCPMC3145113
OpenAlexW2071734901

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.