Evidence map›Paper›PMID 27136393›Full record

ArticleNature communications2016

The topography of mutational processes in breast cancer genomes.

Sandro Morganella, Ludmil B Alexandrov, Dominik Glodzik, Xueqing Zou, Helen Davies, Johan Staaf, Anieta M Sieuwerts, Arie B Brinkman, Sancha Martin, Manasa Ramakrishna and 23 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03242551 (The Role of Multimodal Imaging and Circulating Biomarkers in Predicting the Response of Neoadjuvant Chemotherapy for Breast Cancer), which is not on this map. Cited by 171 papers.

0numbers the graph read from it
0cells of the map it votes in
171citing papers in PubMed
16.5field-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.

NCT03242551 phase2unknown statusnot on this mapstarted 2017, after this paper: background citation

The Role of Multimodal Imaging and Circulating Biomarkers in Predicting the Response of Neoadjuvant Chemotherapy for Breast Cancer

TypeinterventionalSponsorShenzhen People's HospitalRan2017 to 2022Enrolled120ConditionsBreast NeoplasmsArmsChemotherapy
3 · Its place in the literature

Who cites it

171 citing papers in PubMed, 280 citations in OpenAlex.

  1. Article
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  4. Topographical archetypes of somatic mutagenesis in cancer.bioRxiv : the preprint server for biology · 2026
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  16. The topography of nullomer-emerging mutations and their relevance to human disease.Computational and structural biotechnology journal · 2025
    Article
  17. Article
  18. A review on trends in development and translation of omics signatures in cancer.Computational and structural biotechnology journal · 2024
    Review
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

33 authors at 18 institutions in 11 countries.

Sandro MorganellaEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridgeshire CB10 1SD, UK.
Ludmil B AlexandrovWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Dominik GlodzikWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Xueqing ZouWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Helen DaviesWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Johan StaafDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-223 81, Sweden.
Anieta M SieuwertsDepartment of Medical Oncology, Erasmus MC Cancer Institute and Cancer Genomics Netherlands, Erasmus University Medical Center, Rotterdam 3015CN, The Netherlands.
Arie B BrinkmanRadboud University, Faculty of Science, Department of Molecular Biology, 6525GA Nijmegen, The Netherlands.
Sancha MartinWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Manasa RamakrishnaWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Adam ButlerWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Hyung-Yong KimDepartment of Pathology, College of Medicine, Hanyang University, Seoul 133-791, South Korea.
Åke BorgDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-223 81, Sweden.
Christos SotiriouBreast Cancer Translational Research Laboratory, Université Libre de Bruxelles, Institut Jules Bordet, Bd de Waterloo 121, B-1000 Brussels, Belgium.
P Andrew FutrealEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridgeshire CB10 1SD, UK.
Peter J CampbellWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Paul N SpanDepartment of Radiation Oncology, and department of Laboratory Medicine, Radboud university medical center, Nijmegen 6525GA, The Netherlands.ORCID http://orcid.org/0000-0002-1930-6638
Steven Van LaereTranslational Cancer Research Unit, GZA Hospitals Sint-Augustinus, Wilrijk, Belgium and Center for Oncological Research, University of Antwerp, Antwerp B-2610, Belgium.
Sunil R LakhaniCentre for Clinical Research and School of Medicine, University of Queensland, Brisbane, Queensland 4059, Australia.ORCID http://orcid.org/0000-0003-1879-2555
Jorunn E EyfjordCancer Research Laboratory, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Alastair M ThompsonDepartment of Breast Surgical Oncology, University of Texas MD Anderson Cancer Center, 1400 Pressler Street,Houston, Texas 77030, USA.
Hendrik G StunnenbergRadboud University, Faculty of Science, Department of Molecular Biology, 6525GA Nijmegen, The Netherlands.
Marc J van de VijverDepartment of Pathology, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
John W M MartensDepartment of Medical Oncology, Erasmus MC Cancer Institute and Cancer Genomics Netherlands, Erasmus University Medical Center, Rotterdam 3015CN, The Netherlands.
Anne-Lise Børresen-DaleDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, Oslo 0310, Norway.
Andrea L RichardsonDepartment of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Gu KongDepartment of Pathology, College of Medicine, Hanyang University, Seoul 133-791, South Korea.
Gilles ThomasSynergie Lyon Cancer, Centre Léon Bérard, 28 rue Laënnec, Lyon Cedex 08, France.
Julian SaleMRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge CB2 0QH, UK.
Cristina RadaMRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge CB2 0QH, UK.ORCID http://orcid.org/0000-0003-4898-5550
Michael R StrattonWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Ewan BirneyEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridgeshire CB10 1SD, UK.
Serena Nik-ZainalWellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
Wellcome Sanger Institute · GBEuropean Bioinformatics Institute · GBRadboud University Nijmegen · NLErasmus MC · NLHanyang University · KRLund University · SEMRC Laboratory of Molecular Biology · GBAmsterdam UMC Location University of Amsterdam · NLBrigham and Women's Hospital · USCambridge University Hospitals NHS Foundation Trust · GBCentre Léon Bérard · FRLos Alamos National Laboratory · USOslo University Hospital · NOThe University of Queensland · AUThe University of Texas MD Anderson Cancer Center · USUniversité Libre de Bruxelles · BEUniversity of Antwerp · BEUniversity of Iceland · IS

Funding

Tissue and Pathology CoreP50CA168504 · NCI · DANA-FARBER CANCER INST · PI Nabihah Tayob · 2013 to 2026
$30.1M
Cancer Research UK 20952Medical Research Council MC_U105178805Medical Research Council MC_U105178808NCI NIH HHS NIH/NCI 5 P50 CA168504-02NCI NIH HHS P50 CA168504Wellcome TrustWellcome Trust 077012/Z/05/ZWellcome Trust 101126/B/13/ZWellcome Trust WT100183MA
6 · The paper itself

Abstract

Somatic mutations in human cancers show unevenness in genomic distribution that correlate with aspects of genome structure and function. These mutations are, however, generated by multiple mutational processes operating through the cellular lineage between the fertilized egg and the cancer cell, each composed of specific DNA damage and repair components and leaving its own characteristic mutational signature on the genome. Using somatic mutation catalogues from 560 breast cancer whole-genome sequences, here we show that each of 12 base substitution, 2 insertion/deletion (indel) and 6 rearrangement mutational signatures present in breast tissue, exhibit distinct relationships with genomic features relating to transcription, DNA replication and chromatin organization. This signature-based approach permits visualization of the genomic distribution of mutational processes associated with APOBEC enzymes, mismatch repair deficiency and homologous recombinational repair deficiency, as well as mutational processes of unknown aetiology. Furthermore, it highlights mechanistic insights including a putative replication-dependent mechanism of APOBEC-related mutagenesis.

Indexed as

DNA RepairGenome, HumanMutationApolipoproteins BBreast NeoplasmsChromatinDNA DamageDNA ReplicationFemaleHumansMCF-7 CellsMutagenesisSequence Analysis, DNATranscription, GeneticApolipoproteins BChromatin

Identifiers

PMID27136393
PMCPMC5001788
OpenAlexW2342628598

What OpenQuestion holds

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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.