Evidence map›Paper›PMID 22722201›Full record

ArticleNature2012

The landscape of cancer genes and mutational processes in breast cancer.

Philip J Stephens, Patrick S Tarpey, Helen Davies, Peter Van Loo, Chris Greenman, David C Wedge, Serena Nik-Zainal, Sancha Martin, Ignacio Varela, Graham R Bignell and 53 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in Nature, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04403984 (Investigation of the Prognostic Value of Genomic Alterations or Protein Expression in Patients With Operated Early Breast Cancer of Luminal A or Luminal B Subtypes), which is not on this map. Cited by 972 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
972citing papers in PubMed, 1 pooled it
74.4field-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.

NCT04403984 unknown statusnot on this mapstarted 2013, after this paper: background citation

Investigation of the Prognostic Value of Genomic Alterations or Protein Expression in Patients With Operated Early Breast Cancer of Luminal A or Luminal B Subtypes

TypeobservationalSponsorHellenic Cooperative Oncology GroupRan2013 to 2023Enrolled750ConditionsBreast Cancer
3 · Its place in the literature

Who cites it

972 citing papers in PubMed, 1 synthesis or guideline pooled it, 1,717 citations in OpenAlex.

  1. Pooled it
  2. Identifying Locally Recurrent Versus Second Primary Breast Cancer: Genomic Versus Clinical Criteria from Carolina Breast Cancer Study Phase III.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026
    Trial
  3. Subclonal Complete Loss of CDKN1B as a Common Genomic Alteration in Prostate Cancer: Associations With Race and Prostate Cancer Outcomes.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026
    Article
  4. Review
  5. SMARCD1 and Its Functional Relevance in SWI/SNF and Cancer.International journal of molecular sciences · 2026
    Review
  6. Article
  7. RUNX1-deficiency drives immune-active ERbioRxiv : the preprint server for biology · 2026
    Article
  8. Review
  9. Review
  10. Aging-associated differences in mammary tumor-initiating populations and immune evasion pathways in breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

63 authors at 20 institutions in 11 countries.

Philip J StephensCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Patrick S Tarpey
Helen Davies
Peter Van Loo
Chris Greenman
David C Wedge
Serena Nik-Zainal
Sancha Martin
Ignacio Varela
Graham R Bignell
Lucy R Yates
Elli Papaemmanuil
David Beare
Adam Butler
Angela Cheverton
John Gamble
Jonathan Hinton
Mingming Jia
Alagu Jayakumar
David Jones
Calli Latimer
King Wai Lau
Stuart McLaren
David J McBride
Andrew Menzies
Laura Mudie
Keiran Raine
Roland Rad
Michael Spencer Chapman
Jon Teague
Douglas Easton
Anita Langerød
Oslo Breast Cancer Consortium (OSBREAC)
Ming Ta Michael Lee
Chen-Yang Shen
Benita Tan Kiat Tee
Bernice Wong Huimin
Annegien Broeks
Ana Cristina Vargas
Gulisa Turashvili
John Martens
Aquila Fatima
Penelope Miron
Suet-Feung Chin
Gilles Thomas
Sandrine Boyault
Odette Mariani
Sunil R Lakhani
Marc van de Vijver
Laura van 't Veer
John Foekens
Christine Desmedt
Christos Sotiriou
Andrew Tutt
Carlos Caldas
Jorge S Reis-Filho
Samuel A J R Aparicio
Anne Vincent Salomon
Anne-Lise Børresen-Dale
Andrea L Richardson
Peter J Campbell
P Andrew Futreal
Michael R Stratton
Wellcome Sanger Institute · GBDana-Farber Cancer Institute · USCentre Léon Bérard · FRErasmus MC · NLInstitute of Biomedical Sciences, Academia Sinica · TWThe Netherlands Cancer Institute · NLUniversité Libre de Bruxelles · BEUniversity of British Columbia · CAUniversity of Cambridge · GBAmsterdam UMC Location University of Amsterdam · NLCambridge University Hospitals NHS Foundation Trust · GBCentre For Human Genetics · INGuy's Hospital · GBInserm · FRInstitut Curie · FRInstitute of Cancer Research · GBLambeth Hospital · GBMRC Epidemiology Unit · GBNational Cancer Centre Singapore · SGNorwich Research Park · GB

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8M
Variation in Receptor Tyrosine Kinases and Breast Cancer RiskP50CA089393 · NCI · DANA-FARBER CANCER INSTITUTE · PI HARRIS, LYNDSAY NORINE · 2000 to 2009
$28.8M
Cancer Research UK 10118Cancer Research UK 11022Chief Scientist OfficeDepartment of HealthNCI NIH HHS CA089393NCI NIH HHS P30 CA016672NCI NIH HHS P50 CA089393Wellcome Trust 077012/Z/05/ZWellcome Trust 088340Wellcome Trust 093867Wellcome Trust WT088340MA
6 · The paper itself

Abstract

All cancers carry somatic mutations in their genomes. A subset, known as driver mutations, confer clonal selective advantage on cancer cells and are causally implicated in oncogenesis, and the remainder are passenger mutations. The driver mutations and mutational processes operative in breast cancer have not yet been comprehensively explored. Here we examine the genomes of 100 tumours for somatic copy number changes and mutations in the coding exons of protein-coding genes. The number of somatic mutations varied markedly between individual tumours. We found strong correlations between mutation number, age at which cancer was diagnosed and cancer histological grade, and observed multiple mutational signatures, including one present in about ten per cent of tumours characterized by numerous mutations of cytosine at TpC dinucleotides. Driver mutations were identified in several new cancer genes including AKT2, ARID1B, CASP8, CDKN1B, MAP3K1, MAP3K13, NCOR1, SMARCD1 and TBX3. Among the 100 tumours, we found driver mutations in at least 40 cancer genes and 73 different combinations of mutated cancer genes. The results highlight the substantial genetic diversity underlying this common disease.

Indexed as

Age FactorsBreast NeoplasmsCell Transformation, NeoplasticCytosineDNA Mutational AnalysisFemaleHumansJNK Mitogen-Activated Protein KinasesMutagenesisMutationNeoplasm GradingOncogenesReproducibility of ResultsSignal TransductionCytosineJNK Mitogen-Activated Protein Kinases

Identifiers

PMID22722201
PMCPMC3428862
OpenAlexW1979946545

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.