Evidence map›Paper›PMID 36203093›Full record

ArticleCommunications biology2022

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Christopher Hakkaart, John F Pearson, Louise Marquart, Joe Dennis, George A R Wiggins, Daniel R Barnes, Bridget A Robinson, Peter D Mace, Kristiina Aittomäki, Irene L Andrulis and 156 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
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 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.2field-weighted citation impact, top 11% 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

11 citing papers in PubMed, 13 citations in OpenAlex.

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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

166 authors at 20 institutions in 29 countries.

Christopher HakkaartDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
John F PearsonDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.ORCID 0000-0001-5607-4517
Louise MarquartQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-4591-1214
George A R WigginsDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Daniel R BarnesCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0002-3781-7570
Bridget A RobinsonDepartment of Medicine, University of Otago, Christchurch, New Zealand.
Peter D MaceDepartment of Biochemistry, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand.ORCID 0000-0003-2175-9537
Kristiina AittomäkiDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
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
Banu K ArunDepartment of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Jacopo AzzolliniUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.ORCID 0000-0002-9364-9778
Judith BalmañaHereditary cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Hospital Campus, Barcelona, Spain.
Rosa B BarkardottirDepartment of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
Sami BelhadjClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Lieke BergerDepartment of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Marinus J BlokDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.ORCID 0000-0002-7935-5933
Susanne E BoonenDepartment of Clinical Genetics, Odense University Hospital, Odence C, Denmark.
Julika BordeCenter for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Angela R BradburyDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Joan BrunetHereditary Cancer Program, Catalan Institute of Oncology (ICO), ONCOBELL-IDIBELL-IGTP, CIBERONC, Barcelona, Spain.ORCID 0000-0003-1945-3512
Saundra S BuysDepartment of Medicine, Huntsman Cancer Institute, Salt Lake City, UT, USA.
Maria A CaligoSOD Genetica Molecolare, University Hospital, Pisa, Italy.
Ian CampbellPeter MacCallum Cancer Center, Melbourne, Victoria, Australia.ORCID 0000-0002-7773-4155
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY, USA.ORCID 0000-0003-3438-5685
Kathleen B M ClaesCentre for Medical Genetics, Ghent University Hospital, Gent, Belgium.ORCID 0000-0003-0841-7372
GEMO Study Collaborators
EMBRACE Collaborators
Marie-Agnès Collonge-RameService de Génétique Biologique, CHRU de Besançon, Besançon, France.
Jackie CookSheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
Casey CosgroveGynecologic Oncology, Translational Therapeutics, Department of Obstetrics and Gynecology, Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA.
Sita DandikerClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0003-3837-7690
Rosemarie DavidsonDepartment of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK.
Miguel de la HoyaMolecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.ORCID 0000-0002-8113-1410
Robin de PutterCentre for Medical Genetics, Ghent University Hospital, Gent, Belgium.ORCID 0000-0001-9410-8941
Capucine DelnatteOncogénétique, Institut de Cancérologie de l'Ouest siteRené Gauducheau, Saint Herblain, France.
Mallika DhawanCancer Genetics and Prevention Program, University of California San Francisco, San Francisco, CA, USA.
Orland DiezHereditary cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Hospital Campus, Barcelona, Spain.
Yuan Chun DingDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Susan M DomchekBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.
Alan DonaldsonClinical Genetics Department, St Michael's Hospital, Bristol, UK.
Jacqueline EasonNottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-2444-3247
Hans EhrencronaDepartment of Clinical Genetics and Pathology, Laboratory Medicine, Skåne University Hospital, Lund, Sweden.ORCID 0000-0002-5589-3622
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
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.
Ulrike FaustInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Lidia FeliubadalóHereditary Cancer Program, Catalan Institute of Oncology (ICO), ONCOBELL-IDIBELL-IGTP, CIBERONC, Barcelona, Spain.ORCID 0000-0002-1736-0112
Florentia FostiraMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.
Megan FroneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Judy GarberCancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, USA.
Simon A GaytherCenter for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID 0000-0001-7937-5443
Andrea GehrigDepartment of Human Genetics, University Würzburg, Würzburg, Germany.
Paul GestaService Régional Oncogénétique Poitou-Charentes, CH Niort, Niort, France.ORCID 0000-0002-4410-8668
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA.ORCID 0000-0002-3987-9580
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
Mark H GreeneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0003-1852-9239
Eric HahnenCenter for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christopher R HakeWaukesha Memorial Hospital-Pro Health Care, Waukesha, USA.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Thomas V O HansenDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Jan HaukeCenter for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0001-8236-4075
Julia HentschelInstitute of Human Genetics, University Hospital Leipzig, Leipzig, Germany.
Natalie HeroldCenter for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Ellen HonischDepartment of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.ORCID 0000-0001-8397-4078
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St. Petersburg, Russia.
SWE-BRCA Investigators
kConFab Investigators
HEBON Investigators
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.ORCID 0000-0002-9646-1260
Louise IzattClinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.ORCID 0000-0003-1258-4843
Angel IzquierdoHereditary Cancer Program, Catalan Institute of Oncology (ICO), ONCOBELL-IDIBELL-IGTP, CIBERONC, Barcelona, Spain.ORCID 0000-0003-2004-3246
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.ORCID 0000-0002-5650-0501
Paul A JamesSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-4361-4657
Ramunas JanaviciusFaculty of Medicine, Institute of Biomedical Sciences, Dept. Of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
Esther M JohnDepartment of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Vijai JosephClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0002-7933-151X
Beth Y KarlanDavid Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-9451-2933
Zoe KempBreast and Cancer Genetics Units, The Royal Marsden NHS Foundation Trust, London, UK.
Judy KirkFamilial Cancer Service, Weatmead Hospital, Wentworthville, New South Wales, Australia.
Irene KonstantopoulouMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece.ORCID 0000-0002-0470-0309
Marco KoudijsDepartment of Medical Genetics, University Medical Center, Utrecht, The Netherlands.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Hong Kong, China.
Yael LaitmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.
Fiona LallooDepartment of Population Health Sciences, Weill Cornell Medicine, New York, NY, USA.
Christine LassetUnité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France.
Charlotte LautrupDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
Conxi LazaroHereditary Cancer Program, Catalan Institute of Oncology (ICO), ONCOBELL-IDIBELL-IGTP, CIBERONC, Barcelona, Spain.ORCID 0000-0002-7198-5906
Clémentine LegrandDépartement de Génétique, CHU de Grenoble, Grenoble, France.
Goska LeslieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0001-5756-6222
Fabienne LesueurGenetic Epidemiology of Cancer team, Inserm U900, Paris, France.ORCID 0000-0001-7404-4549
Phuong L MaiMagee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Siranoush ManoukianUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
Véronique MariDépartement d'Hématologie-Oncologie Médicale, Centre Antoine Lacassagne, Nice, France.
John W M MartensDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.ORCID 0000-0002-3428-3366
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Noura MebiroukGenetic Epidemiology of Cancer team, Inserm U900, Paris, France.
Alfons MeindlDepartment of Gynecology and Obstetrics, University of Munich, Campus Großhadern, Munich, Germany.
Austin MillerNRG Oncology, Statistics and Data Management Center, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.ORCID 0000-0001-9739-8462
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Lidia MoserleImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Emmanuelle Mouret-FourmeService de Génétique, Institut Curie, Paris, France.
Hannah MusgraveDepartment of Clinical Genetics, Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
Sophie NambotUnité d'oncogénétique, Centre de Lutte Contre le Cancer, Centre Georges-François Leclerc, Dijon, France.ORCID 0000-0002-9630-5049
Katherine L NathansonBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-6740-0901
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.ORCID 0000-0001-5053-0390
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-0916-2976
Joanne Ngeow Yuen YieLee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.ORCID 0000-0003-1558-3627
Tu Nguyen-DumontPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.
Liene Nikitina-ZakeLatvian Biomedical Research and Study Centre, Riga, Latvia.ORCID 0000-0003-2491-5187
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA.ORCID 0000-0002-9936-1599
Ana OsorioFamilial Cancer Clinical Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO) and Spanish Network on Rare Diseases (CIBERER), Madrid, Spain.ORCID 0000-0001-8124-3984
Claus-Eric OttInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.ORCID 0000-0003-3627-3791
Sue K ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0001-5002-9707
Michael T ParsonsDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-3242-8477
Inge Sokilde PedersenMolecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.ORCID 0000-0002-9902-8040
Ana PeixotoDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Pedro Perez-SeguraMolecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Paolo PeterlongoGenome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology, Milan, Italy.ORCID 0000-0001-6951-6855
Timea PoczaDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.ORCID 0000-0001-6298-4111
Juliane RamserDivision of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany.
Johanna RantalaClinical Genetics, Karolinska Institutet, Stockholm, Sweden.
Gustavo C RodriguezDivision of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Evanston, IL, USA.
Karina RønlundDepartment of Clinical Genetics, University Hospital of Southern Denmark, Vejle Hospital, Vejle, Denmark.
Efraim H RosenbergDepartment of Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.ORCID 0000-0002-3859-6941
Maria RossingCenter for Genomic Medicine, Rigshospitalet, Copenhagen, Denmark.
Rita K SchmutzlerCenter for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Payal D ShahDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Saba SharifWest Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Birmingham, UK.
Priyanka SharmaDepartment of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, USA.
Lucy E SidePrincess Anne Hospital, Southampton, UK.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada.ORCID 0000-0001-6906-3390
Christian F SingerDept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Katie SnapeMedical Genetics Unit, St George's, University of London, London, UK.
Doris SteinemannInstitute of Human Genetics, Hannover Medical School, Hannover, Germany.ORCID 0000-0001-8797-0816
Dominique Stoppa-LyonnetService de Génétique, Institut Curie, Paris, France.
Christian SutterInstitute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.ORCID 0000-0003-4051-5888
Yen Yen TanDept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.ORCID 0000-0003-1063-5352
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.ORCID 0000-0002-4896-5982
Soo Hwang TeoBreast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.ORCID 0000-0002-0444-590X
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odence C, Denmark.
Darcy L ThullDepartment of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada.ORCID 0000-0002-7880-0628
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA.ORCID 0000-0002-0271-1792
Alison H TrainerParkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Vishakha TripathiSouth East Thames Regional Genetics Service, Guy's and St Thomas' NHS Foundation Trust, London, UK.ORCID 0000-0001-8118-8364
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Klaartje van EngelenDepartment of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Elizabeth J van RensburgDepartment of Genetics, University of Pretoria, Arcadia, South Africa.ORCID 0000-0003-2077-230X
Ana VegaCentro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.ORCID 0000-0002-7416-5137
Alessandra VielDivision of Functional onco-genomics and genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.ORCID 0000-0003-2804-0840
Lisa WalkerOxford Regional Genetics Service, Churchill Hospital, Oxford, UK.
Jeffrey N WeitzelLatin American School of Oncology, Tuxtla Gutiérrez, Chiapas, Mexico.ORCID 0000-0001-6714-092X
Marike R WeversRadboud University Medical Center, Nijmegen, Netherlands.ORCID 0000-0001-8008-6008
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Amanda B SpurdleDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-1337-7897
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Logan C WalkerDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. logan.walker@otago.ac.nz.ORCID 0000-0003-0018-3719
University of Cambridge · GBMemorial Sloan Kettering Cancer Center · USInserm · FRQIMR Berghofer Medical Research Institute · AUThe University of Melbourne · AUUniversity of Cologne · DEUniversity of Otago · NZGuy's and St Thomas' NHS Foundation Trust · GBInstitut d'Investigació Biomédica de Bellvitge · ESNational Centre of Scientific Research "Demokritos" · GRNorthShore University HealthSystem · USRadboud University Nijmegen · NLIstituto Oncologico Veneto · ITUniversity of Helsinki · FIAalborg University Hospital · DKBeth Israel Deaconess Medical Center · USCedars-Sinai Medical Center · USCentre Hospitalier Universitaire de Besançon · FRComprehensive Cancer Center Vienna · ATCopenhagen University Hospital · DK

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
NRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8M
SWOG Network Group Operations Center of the NCTNU10CA180888 · NCI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI PRIMO N. LARA · 2014 to 2026
$152.1M
Statistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI James J. Dignam, GREG YOTHERS · 2014 to 2026
$146.4M
NRG Oncology NCORP Research Base-BIQSFPUG1CA189867 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI Deborah Watkins Bruner, Lisa A. Kachnic · 2014 to 2026
$140.5M
GYNECOLOGIC ONCOLOGY GROUP HEADQUARTERSU10CA027469 · NCI · GYNECOLOGIC ONCOLOGY GROUP · PI DISAIA, PHILIP J. · 1985 to 2013
$132.6M
Tissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI Louis M Weiner · 1990 to 2026
$71.5M
GYNECOLOGIC ONCOLOGY GROUP STATISTICAL OFFICEU10CA037517 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI BLESSING, JOHN A · 1985 to 2013
$67.4M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9M
Transgenic & Gene-Targeting Shared ResourceP30CA168524 · NCI · UNIVERSITY OF KANSAS MEDICAL CENTER · PI ROY A. JENSEN · 2012 to 2026
$40.1M
Using Integrated Omics to Identify Dysfunctional Genetic Mechanisms Influencing Schizophrenia and Sleep DisturbancesP20GM130423 · NIGMS · UNIVERSITY OF KANSAS MEDICAL CENTER · PI Kalyani Pyaram, Steven Allan Soper · 2019 to 2026
$21.5M
Cancer Research UK 20861Cancer Research UK 26886NCATS NIH HHS UL1 TR000124NCI NIH HHS N02 CP011019NCI NIH HHS N02 CP065504NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA051008NCI NIH HHS P30 CA168524NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA140323NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA149429NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS R01 CA214545NCI NIH HHS R01 CA260132NCI NIH HHS R03 CA130065NCI NIH HHS R25 CA112486NCI NIH HHS RC4 CA153828NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA161032NCI NIH HHS U10 CA027469NCI NIH HHS U10 CA037517NCI NIH HHS U10 CA180822NCI NIH HHS U10 CA180868NCI NIH HHS U10 CA180888NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UG1 CA189867NCI NIH HHS UG1 CA233191NCI NIH HHS UG1 CA233290NCI NIH HHS UM1 CA164920NIGMS NIH HHS P20 GM130423Wellcome Trust 203477/Z/16/Z
6 · The paper itself

Abstract

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.

Indexed as

Breast NeoplasmsBRCA1 ProteinBRCA2 ProteinDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseHeterozygoteHumansRNA, MessengerBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanRNA, Messenger

Identifiers

PMID36203093
PMCPMC9537519
OpenAlexW4303184032

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