Evidence map›Paper›PMID 22722202›Full record

ArticleNature2012

Sequence analysis of mutations and translocations across breast cancer subtypes.

Shantanu Banerji, Kristian Cibulskis, Claudia Rangel-Escareno, Kristin K Brown, Scott L Carter, Abbie M Frederick, Michael S Lawrence, Andrey Y Sivachenko, Carrie Sougnez, Lihua Zou and 37 more

Open access · hybridAbstract 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. Cited by 682 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
682citing papers in PubMed, 2 pooled it
53.4field-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.

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

682 citing papers in PubMed, 2 syntheses or guidelines pooled it, 1,191 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Trial
  4. Trial
  5. Article
  6. Characteristics of fusion genes in breast cancer.Cancer cell international · 2026
    Review
  7. Article
  8. Article
  9. Article
  10. The GATA3-RFPL3-ASK1 axis suppresses breast cancer growth and lung metastasis.Apoptosis : an international journal on programmed cell death · 2026
    Article
  11. Article
  12. RUNX1-deficiency drives immune-active ERbioRxiv : the preprint server for biology · 2026
    Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

47 authors at 7 institutions in 2 countries.

Shantanu BanerjiThe Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Kristian Cibulskis
Claudia Rangel-Escareno
Kristin K Brown
Scott L Carter
Abbie M Frederick
Michael S Lawrence
Andrey Y Sivachenko
Carrie Sougnez
Lihua Zou
Maria L Cortes
Juan C Fernandez-Lopez
Shouyong Peng
Kristin G Ardlie
Daniel Auclair
Veronica Bautista-Piña
Fujiko Duke
Joshua Francis
Joonil Jung
Antonio Maffuz-Aziz
Robert C Onofrio
Melissa Parkin
Nam H Pho
Valeria Quintanar-Jurado
Alex H Ramos
Rosa Rebollar-Vega
Sergio Rodriguez-Cuevas
Sandra L Romero-Cordoba
Steven E Schumacher
Nicolas Stransky
Kristin M Thompson
Laura Uribe-Figueroa
Jose Baselga
Rameen Beroukhim
Kornelia Polyak
Dennis C Sgroi
Andrea L Richardson
Gerardo Jimenez-Sanchez
Eric S Lander
Stacey B Gabriel
Levi A Garraway
Todd R Golub
Jorge Melendez-Zajgla
Alex Toker
Gad Getz
Alfredo Hidalgo-Miranda
Matthew Meyerson
Broad Institute · USNational Institute of Genomic Medicine · MXHarvard University · USDana-Farber Cancer Institute · USBeth Israel Deaconess Medical Center · USBrigham and Women's Hospital · USHoward Hughes Medical Institute · US

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
Variation in Receptor Tyrosine Kinases and Breast Cancer RiskP50CA089393 · NCI · DANA-FARBER CANCER INSTITUTE · PI HARRIS, LYNDSAY NORINE · 2000 to 2009
$28.8M
The Cancer Genome Atlas Data Analysis CenterU24CA143845 · NCI · BROAD INSTITUTE, INC. · PI CHIN, LYNDA, GETZ, GAD A · 2009 to 2016
$16.0M
The Akt and NFAT Pathway and the Regulaton of Cancer Cell MotilityR01CA122099 · NCI · BETH ISRAEL DEACONESS MEDICAL CENTER · PI TOKER, ALEX · 2007 to 2011
$1.4M
Howard Hughes Medical InstituteNCI NIH HHS CA089393NCI NIH HHS CA122099NCI NIH HHS P50 CA089393NCI NIH HHS R01 CA122099NCI NIH HHS U24 CA143845NHGRI NIH HHS U54 HG003067
6 · The paper itself

Abstract

Breast carcinoma is the leading cause of cancer-related mortality in women worldwide, with an estimated 1.38 million new cases and 458,000 deaths in 2008 alone. This malignancy represents a heterogeneous group of tumours with characteristic molecular features, prognosis and responses to available therapy. Recurrent somatic alterations in breast cancer have been described, including mutations and copy number alterations, notably ERBB2 amplifications, the first successful therapy target defined by a genomic aberration. Previous DNA sequencing studies of breast cancer genomes have revealed additional candidate mutations and gene rearrangements. Here we report the whole-exome sequences of DNA from 103 human breast cancers of diverse subtypes from patients in Mexico and Vietnam compared to matched-normal DNA, together with whole-genome sequences of 22 breast cancer/normal pairs. Beyond confirming recurrent somatic mutations in PIK3CA, TP53, AKT1, GATA3 and MAP3K1, we discovered recurrent mutations in the CBFB transcription factor gene and deletions of its partner RUNX1. Furthermore, we have identified a recurrent MAGI3-AKT3 fusion enriched in triple-negative breast cancer lacking oestrogen and progesterone receptors and ERBB2 expression. The MAGI3-AKT3 fusion leads to constitutive activation of AKT kinase, which is abolished by treatment with an ATP-competitive AKT small-molecule inhibitor.

Indexed as

AlgorithmsBreast NeoplasmsCore Binding Factor Alpha 2 SubunitCore Binding Factor beta SubunitDNA Mutational AnalysisExomeFemaleGene FusionHumansMembrane ProteinsMexicoMutationProto-Oncogene Proteins c-aktTranslocation, GeneticVietnamAKT3 protein, humanCBFB protein, humanCore Binding Factor Alpha 2 SubunitCore Binding Factor beta SubunitMAGI3 protein, humanMembrane ProteinsProto-Oncogene Proteins c-aktRUNX1 protein, human

Identifiers

PMID22722202
PMCPMC4148686
OpenAlexW2082887122

What OpenQuestion holds

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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.