Evidence map›Paper›PMID 27498871›Full record

ArticleCell reports2016

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer.

Adam Shlien, Keiran Raine, Fabio Fuligni, Roland Arnold, Serena Nik-Zainal, Serge Dronov, Lira Mamanova, Andrej Rosic, Young Seok Ju, Susanna L Cooke and 28 more

Open access · goldAbstract read
In one paragraph

Article in Cell reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
3.1field-weighted citation impact, top 9% 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

32 citing papers in PubMed, 45 citations in OpenAlex.

  1. Review
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  7. Detecting Medium and Large Insertions and Deletions with transIndel.Methods in molecular biology (Clifton, N.J.) · 2022
    Article
  8. Article
  9. Breast Cancer and the Other Non-Coding RNAs.International journal of molecular sciences · 2021
    Review
  10. Article
  11. GeTallele: A Method for Analysis of DNA and RNA Allele Frequency Distributions.Frontiers in bioengineering and biotechnology · 2020
    Article
  12. Article
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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

38 authors at 12 institutions in 7 countries.

Adam ShlienCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK. Electronic address: adam.shlien@sickkids.ca.
Keiran RaineCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Fabio FuligniDepartment of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Roland ArnoldDepartment of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Serena Nik-ZainalCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Serge DronovCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Lira MamanovaCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Andrej RosicDepartment of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Young Seok JuCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Susanna L CookeCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Manasa RamakrishnaCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Elli PapaemmanuilCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Helen R DaviesCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Patrick S TarpeyCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Peter Van LooCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; Department of Human Genetics, University of Leuven, 3000 Leuven, Belgium.
David C WedgeCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
David R JonesCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Sancha MartinCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
John MarshallCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Elizabeth AndersonCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Claire HardyCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
ICGC Breast Cancer Working Group, Oslo Breast Cancer Research Consortium
Violetta BarbashinaBreakthrough Breast Cancer, The Institute of Cancer Research, London SM2 5NG, UK.
Samuel A J R AparicioBritish Columbia Cancer Agency, Vancouver, BC V5Z 1L3, Canada.
Torill SauerDepartment of Pathology, Oslo University Hospital, 0450 Oslo, Norway.
Øystein GarredDepartment of Pathology, Oslo University Hospital, 0450 Oslo, Norway.
Anne Vincent-SalomonInstitut Curie, 75005 Paris, France.
Odette MarianiInstitut Curie, 75005 Paris, France.
Sandrine BoyaultSynergie Lyon Cancer, Centre Léon Bérard, 69008 Lyon, France.
Aquila FatimaDana-Farber Cancer Institute, Boston, MA 02215, USA.
Anita LangerødDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0379 Oslo, Norway; K.G. Jebsen Center for Breast Cancer Research, Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, 0316 Oslo, Norway.
Åke BorgDepartment of Oncology, Lund University, SE-221 00 Lund, Sweden.
Gilles ThomasSynergie Lyon Cancer, Centre Léon Bérard, 69008 Lyon, France.
Andrea L RichardsonDana-Farber Cancer Institute, Boston, MA 02215, USA.
Anne-Lise Børresen-DaleDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0379 Oslo, Norway; K.G. Jebsen Center for Breast Cancer Research, Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, 0316 Oslo, Norway.
Kornelia PolyakDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Michael R StrattonCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Peter J CampbellCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK; Department of Haematology, University of Cambridge, Cambridge CB2 1TN, UK. Electronic address: pc8@sanger.ac.uk.
Wellcome Sanger Institute · GBDana-Farber Cancer Institute · USHospital for Sick Children · CACentre Léon Bérard · FRInstitut Curie · FROslo University Hospital · NOUniversity of Oslo · NOAddenbrooke's Hospital · GBBC Cancer Agency · CAInstitute of Cancer Research · GBKU Leuven · BELund University · SE

Funding

Wellcome Trust 077012/Z/05/ZWellcome Trust WT088340MA
6 · The paper itself

Abstract

Disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription, coordinated secondary pathway alterations, and increased transcriptional noise. To catalog the rules governing how somatic mutation exerts direct transcriptional effects, we developed an exhaustive pipeline for analyzing RNA sequencing data, which we integrated with whole genomes from 23 breast cancers. Using X-inactivation analyses, we found that cancer cells are more transcriptionally active than intermixed stromal cells. This is especially true in estrogen receptor (ER)-negative tumors. Overall, 59% of substitutions were expressed. Nonsense mutations showed lower expression levels than expected, with patterns characteristic of nonsense-mediated decay. 14% of 4,234 rearrangements caused transcriptional abnormalities, including exon skips, exon reusage, fusions, and premature polyadenylation. We found productive, stable transcription from sense-to-antisense gene fusions and gene-to-intergenic rearrangements, suggesting that these mutation classes drive more transcriptional disruption than previously suspected. Systematic integration of transcriptome with genome data reveals the rules by which transcriptional machinery interprets somatic mutation.

Indexed as

AlgorithmsExomeGene Expression Regulation, NeoplasticMutationTranscriptomeBreast NeoplasmsData Interpretation, StatisticalFemaleHigh-Throughput Nucleotide SequencingHumansOncogene Proteins, FusionPolyadenylationReceptors, EstrogenX Chromosome InactivationOncogene Proteins, FusionReceptors, Estrogen

Identifiers

PMID27498871
PMCPMC4987284
OpenAlexW2487234017

What OpenQuestion holds

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LicenceCC BY
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.