ArticleCommunications biology2022
Rare germline copy number variants (CNVs) and breast cancer risk.
Open access · goldAbstract read
In one paragraph
Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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0cells of the map it votes in
13citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
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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.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Determination of copy number variations and affected gene networks in breast cancer.Biomedical reports · 2026Article
- Low Frequency of Pathogenic Variants in BRCA1 Exons 11/20 and BRCA2 Exon 11 Suggests Divergent Mutational Hotspots in Sudanese Breast Cancer Patients: A Case-Control Study.Breast cancer : basic and clinical research · 2026Article
- The role of long non-coding RNAs in lung cancer metastasis: Molecular mechanisms, pathogenesis and clinical implications.Clinical and translational medicine · 2025Review
- Germline copy number variants and endometrial cancer risk.Human genetics · 2024Article
- Comprehensive breast cancer risk analysis with whole exome sequencing and the prevalence ofBiomedical reports · 2024Article
- Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.Human genomics · 2024Article
- NTHL1 is a recessive cancer susceptibility gene.Scientific reports · 2023Article
- Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.PLoS genetics · 2023Article
- Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.Genes · 2023Article
- Molecular portraits of cell cycle checkpoint kinases in cancer evolution, progression, and treatment responsiveness.Science advances · 2023Article
- Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.International journal of molecular sciences · 2023Article
- Article
Corrections and comments
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Authors and funding
124 authors at 20 institutions in 22 countries.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. jgd29@cam.ac.uk.ORCID 0000-0003-4591-1214
Jonathan P TyrerCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.ORCID 0000-0003-3724-4757
Logan C WalkerDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.ORCID 0000-0003-0018-3719
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0001-7065-1237
Leila DorlingCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0002-9139-0627
Thomas U AhearnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.ORCID 0000-0002-4226-6435
Hoda Anton-CulverDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.
Natalia N AntonenkovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0001-9320-8684
Kristan J AronsonDepartment of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, ON, Canada.ORCID 0000-0002-7865-7243
Laura E Beane FreemanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0002-9714-104X
Javier BenitezBiomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
Marina BermishevaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Natalia V BogdanovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigacion 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.
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Christine L ClarkeWestmead Institute for Medical Research, University of Sydney, Sydney, NSW, Australia.
NBCS Collaborators
J Margriet ColléeDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
CTS Consortium
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Angela CoxSheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.ORCID 0000-0002-9458-0282
Laure DossusNutrition and Metabolism Section, International Agency for Research on Cancer (IARC-WHO), Lyon, France.ORCID 0000-0003-2716-5748
A Heather EliassenChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
D Gareth EvansDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.ORCID 0000-0002-5100-623X
Olivia FletcherThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Lin FritschiSchool of Public Health, Curtin University, Perth, WA, Australia.ORCID 0000-0002-7692-3560
Marike GabrielsonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Manuela Gago-DominguezFundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Graham G GilesCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.ORCID 0000-0003-4946-9099
Anna González-NeiraHuman Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Pascal GuénelCenter for Research in Epidemiology and Population Health (CESP), Team Exposome and Heredity, INSERM, University Paris-Saclay, Villejuif, France.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Antoinette HollestelleDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.ORCID 0000-0003-1166-1966
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Anthony HowellDivision of Cancer Sciences, University of Manchester, Manchester, UK.
ABCTB Investigators
kConFab/AOCS Investigators
Agnes JagerDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.ORCID 0000-0002-5650-0501
Esther M JohnDepartment of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Nichola JohnsonThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.ORCID 0000-0002-8230-5662
Michael E JonesDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.ORCID 0000-0001-7479-3451
Audrey JungDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Rudolf KaaksDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Renske KeemanDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.ORCID 0000-0002-5452-9933
Elza KhusnutdinovaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Cari M KitaharaRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Yon-Dschun KoDepartment of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany.
Veli-Matti KosmaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Stella KoutrosDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Vessela N KristensenDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.ORCID 0000-0001-5012-7438
Katerina Kubelka-SabitDepartment of Histopathology and Cytology, Clinical Hospital Acibadem Sistina, Skopje, Republic of North Macedonia.
Allison W KurianDepartment of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.
James V LaceyDepartment of Computational and Quantitative Medicine, City of Hope, Duarte, CA, USA.
Diether LambrechtsVIB Center for Cancer Biology, Leuven, Belgium.
Nicole L LarsonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-2129-6934
Martha LinetRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Alicja OgrodniczakDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Siranoush ManoukianUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Sara MargolinDepartment of Oncology, Södersjukhuset, Stockholm, Sweden.
Dimitrios MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Roger L MilneCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.ORCID 0000-0001-5764-7268
Taru A MuranenDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Rachel A MurphySchool of Population and Public Health, University of British Columbia, Vancouver, BC, Canada.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-0916-2976
Janet E OlsonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0003-4944-7789
Håkan OlssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Charles M PerouDepartment of Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Paolo PeterlongoGenome Diagnostics Program, IFOM - the FIRC Institute of Molecular Oncology, Milan, Italy.ORCID 0000-0001-6951-6855
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', MASA, Skopje, Republic of North Macedonia.ORCID 0000-0001-8877-2416
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.ORCID 0000-0002-2449-0521
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.ORCID 0000-0002-8512-068X
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, Larissa, Greece.
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Elinor J SawyerSchool of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, King's College London, London, UK.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Rana ShibliClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Ann SmeetsDepartment of Surgical Oncology, University Hospitals Leuven, Leuven, Belgium.
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada.
Melissa C SoutheyCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Anthony J SwerdlowDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Rulla M TamimiDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Lauren R TerasDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
Ian TomlinsonCancer Research UK Edinburgh Centre, The University of Edinburgh, Edinburgh, UK.ORCID 0000-0003-3037-1470
Melissa A TroesterDepartment of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Thérèse TruongCenter for Research in Epidemiology and Population Health (CESP), Team Exposome and Heredity, INSERM, University Paris-Saclay, Villejuif, France.ORCID 0000-0002-2943-6786
Celine M VachonDepartment of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-1962-9322
Camilla WendtDepartment of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Alicja WolkInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0001-7387-6845
Xiaohong R YangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Argyrios ZiogasDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.ORCID 0000-0003-4529-3727
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada.ORCID 0000-0001-6906-3390
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.ORCID 0000-0001-6651-7166
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0001-8494-732X
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-2444-3247
Oslo University Hospital · NOThe University of Melbourne · AUNational Institutes of Health · USUniversity of Cambridge · GBThe University of Sydney · AUInstitute of Cancer Research · GBGerman Cancer Research Center · DEKarolinska Institutet · SEUniversity of North Carolina at Chapel Hill · USHarvard University · USMayo Clinic in Florida · USMedizinische Hochschule Hannover · DEPeter MacCallum Cancer Centre · AUThe Netherlands Cancer Institute · NLUniversity of California, Irvine · USUniversity of Helsinki · FIAmerican Cancer Society · USAustralian National University · AUBashkir State University · RUBrigham and Women's Hospital · US
Funding
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3MVIRAL MALIGNANCYP30CA023100 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DIANE M SIMEONE · 1985 to 2026
$124.9MTransgenic Mouse FacilityP30CA033572 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI STANLEY R. HAMILTON · 1985 to 2026
$86.3MStatistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8MTissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KATHERINE A. HOADLEY · 1992 to 2026
$59.3MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9MUnderstanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3MCALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7MGENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2MMultiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2MCancer Research UK 14136Cancer Research UK 16563Cancer Research UK C12292/A11174Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A16563Cancer Research UK C490/A10124Cancer Research UK C490/A16561Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C570/A16491Cancer Research UK C8197/A16565Cancer Research UK C8221/A19170Intramural NIH HHS Z01 CP010119Intramural NIH HHS Z01 ES044005Intramural NIH HHS Z01 ES049030Intramural NIH HHS Z01 ES049033Medical Research Council 1000143Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MR/M012190/1Medical Research Council MR/N003284/1NCCDPHP CDC HHS NU58DP006344NCI NIH HHS HHSN261201800009CNCI NIH HHS HHSN261201800009INCI NIH HHS HHSN261201800015CNCI NIH HHS HHSN261201800015INCI NIH HHS HHSN261201800032CNCI NIH HHS HHSN261201800032INCI NIH HHS K07 CA092044NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA023100NCI NIH HHS P30 CA033572NCI NIH HHS P30 CA068485NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA047147NCI NIH HHS R01 CA047305NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA069664NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA097396NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128931NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA140286NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA177150NCI NIH HHS R01 CA192393NCI NIH HHS R35 CA253187NCI NIH HHS R37 CA054281NCI NIH HHS U01 CA058860NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA164920NCI NIH HHS U01 CA164973NCI NIH HHS U01 CA176726NCI NIH HHS U01 CA179715NCI NIH HHS U01 CA199277NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS U54 CA156733NCI NIH HHS UM1 CA164917NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA164973NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA186107NIEHS NIH HHS P30 ES010126World Health Organization 001
Abstract
Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E-18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.
Indexed as
DNA Copy Number VariationsGenome, HumanGenome-Wide Association StudyGerm CellsBreast NeoplasmsCase-Control StudiesFemaleHumansRisk Factors
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