SynthesisNature genetics2023
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Erratum issuedOpen access · hybridAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 45 papers.
0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
17.2field-weighted citation impact, top 1% of its field
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.
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.
Who cites it
45 citing papers in PubMed, 55 citations in OpenAlex.
- NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease.Cell genomics · 2026Article
- The BRCA1-A complex restricts replication fork reversal-dependent DNA repair in ATM deficient cells.Nature communications · 2026Article
- Article
- Diverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers.medRxiv : the preprint server for health sciences · 2026Article
- Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.American journal of human genetics · 2026Article
- Article
- Importance of genetic testing in childhood cancer survivors for hereditary cancer predisposition syndromes.Hereditary cancer in clinical practice · 2026Article
- A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair-deficient breast or ovarian cancer.BJC reports · 2026Article
- Investigating the contribution of rare non-coding variants in BRCA1, BRCA2 and PALB2 to hereditary breast cancer.NPJ breast cancer · 2026Article
- The BRCA1-A complex restricts replication fork reversal-dependent DNA repair in ATM deficient cells.bioRxiv : the preprint server for biology · 2026Article
- Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.International journal of molecular sciences · 2026Article
- Breast Cancer Disparities in African and African-Ancestry Populations: Genetics, Epigenetics, Structural Barriers and Technology-Enabled Solutions.British journal of biomedical science · 2026Review
- A NovelCurrent oncology (Toronto, Ont.) · 2025Article
- Integrative Gene-Centric Analysis Reveals Cellular Pathways Associated with Heritable Breast Cancer Predisposition.Cancers · 2025Article
- Mutational landscape and risk estimates of DDR genes in Chinese ovarian cancer patients.Journal of ovarian research · 2025Article
- Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer.NPJ breast cancer · 2025Article
- Meta-analysis of exome-wide gene burden analysis of breast cancer susceptibility genes.NPJ breast cancer · 2025Article
- Integrated Expression Analysis May Support Serine/Threonine Kinases as Common Hub Genes in Breast Cancer.Iranian journal of medical sciences · 2025Article
- Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.Nature communications · 2025Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
58 authors at 20 institutions in 10 countries.
Naomi WilcoxCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Martine DumontGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Quebec, Canada.
Anna González-NeiraHuman Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Sara CarvalhoCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Charles Joly BeauparlantGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Quebec, Canada.
Marco CrottiCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Craig LuccariniCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Quebec, Canada.
Stéphane DuboisGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Quebec, Canada.
Rocio Nuñez-TorresHuman Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Guillermo PitaHuman Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Eugene J GardnerMRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-9671-1533
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
M Rosario AlonsoHuman Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Nuria ÁlvarezHuman Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Caroline BaynesCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Annie Claude Collin-DeschesnesGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Quebec, Canada.
Sylvie DesjardinsGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Quebec, Canada.
Heiko BecherInstitute of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID http://orcid.org/0000-0002-8808-6667
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0002-9714-104X
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Sten CornelissenDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.ORCID http://orcid.org/0000-0002-9458-0282
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Manuela Gago-DominguezCancer Genetics and Epidemiology Group, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS) Foundation, Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.
Pascal GuénelTeam 'Exposome and Heredity,' CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France.ORCID http://orcid.org/0000-0002-8359-518X
Andreas HadjisavvasDepartment of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore City, Singapore.
Belén HerráezHuman Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
SGBCC Investigators
Audrey JungDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Renske KeemanDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.
Marion KiechleDivision of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany.
Jingmei LiGenome Institute of Singapore, Agency for Science, Technology and Research, Singapore City, Singapore. lijm1@gis.a-star.edu.sg.ORCID http://orcid.org/0000-0001-8587-7511
Maria A LoizidouDepartment of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Michael LushCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-5945-3440
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-7065-1237
Mihalis I PanayiotidisDepartment of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.ORCID http://orcid.org/0000-0002-1450-3552
Xueling SimSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore City, Singapore.ORCID http://orcid.org/0000-0002-1233-7642
Soo Hwang TeoBreast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Malaysia.ORCID http://orcid.org/0000-0002-0444-590X
Jonathan P TyrerCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-3724-4757
Lizet E van der KolkFamily Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands.
Cecilia WahlströmDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-9139-0627
John R B PerryMRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-6483-3771
Javier BenitezHuman Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-2228-429X
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-8494-732X
Arnaud DroitGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Quebec, Canada.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-6651-7166
Anders KvistDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.ORCID http://orcid.org/0000-0002-1358-0695
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.ORCID http://orcid.org/0000-0002-8023-2009
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. dfe20@medschl.cam.ac.uk.ORCID http://orcid.org/0000-0003-2444-3247
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Quebec, Canada.ORCID http://orcid.org/0000-0001-6906-3390
University of Cambridge · GBCentre hospitalier universitaire de Québec · CASpanish National Cancer Research Centre · ESAgency for Science, Technology and Research · SGLund University · SENational University of Singapore · SGSingapore General Hospital · SGUniversity of Cologne · DEGerman Cancer Research Center · DEUniversität Hamburg · DECancer Research UK · GBChangi General Hospital · SGComplejo Hospitalario Universitario de Santiago · ESCyprus Institute of Neurology and Genetics · CYInserm · FRInstituto de Salud Carlos III · ESLeipzig University · DEMedizinische Hochschule Hannover · DEServicio Gallego de Salud · ESTan Tock Seng Hospital · SG
Funding
Medical Research Council MC_UU_00006/2Medical Research Council MC_UU_12015/2Wellcome Trust 203477/Z/16/Z
Abstract
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2.5 × 10
Indexed as
ExomeNeoplasmsExome SequencingFemaleHumansMutation, Missense
Identifiers
What OpenQuestion holds
Textmetadata
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.