Evidence map›Paper›PMID 34113011›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.

Inge M M Lakeman, Alexandra J van den Broek, Juliën A M Vos, Daniel R Barnes, Julian Adlard, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Judith Balmaña and 106 more

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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

22 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Trial
  3. Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
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  11. Review
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  14. Review
  15. Genomes in clinical care.NPJ genomic medicine · 2024
    Review
  16. Article
  17. Article
  18. Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease.Annals of clinical and translational neurology · 2023
    Article
  19. Article
  20. EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy.European journal of cancer (Oxford, England : 1990) · 2023
    Review
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

116 authors.

Inge M M Lakeman *Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Alexandra J van den Broek *Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Juliën A M VosDivision of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Daniel R BarnesCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Julian AdlardYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.
Adalgeir ArasonDepartment of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
Norbert ArnoldDepartment of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Banu K ArunDepartment of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Judith BalmañaHereditary cancer Genetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Javier BenitezCentro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Ake BorgDepartment of Oncology, Lund University and Skåne University Hospital, Lund, Sweden.
Trinidad CaldésMolecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Maria A CaligoSOD Genetica Molecolare. University Hospital, Pisa, Italy.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY, USA.
Kathleen B M ClaesCentre for Medical Genetics, Ghent University, Ghent, Belgium.
GEMO Study Collaborators
EMBRACE Collaborators
J Margriet ColléeDepartment of Clinical Genetics, Erasmus University Medical Center, CA, Rotterdam, The Netherlands.
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.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Mallika DhawanCancer Genetics and Prevention Program, University of California San Francisco, San Francisco, CA, USA.
Susan M DomchekBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.
Ros EelesOncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK.
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.
Lidia FeliubadalóHereditary Cancer Program, ONCOBELL-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Lenka ForetovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Patricia A GanzSchools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, CA, USA.
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.
Anne-Marie GerdesDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christopher R HakeWaukesha Memorial Hospital-Pro Health Care, Waukesha, WI, USA.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Frans B L HogervorstFamily Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Maartje J HooningDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St. Petersburg, Russia.
OCGN Investigators
HEBON Investigators
KconFab Investigators
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.
Louise IzattClinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Paul A JamesParkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, VIC, Australia.
Ramunas JanaviciusHematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania.
Uffe Birk JensenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Yue JiaoGenetic Epidemiology of Cancer team, Paris, France.
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.
Beth Y KarlanDavid Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, USA.
Carolien M KetsFamily Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Irene KonstantopoulouMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong.
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.
Fabienne LesueurGenetic Epidemiology of Cancer team, Paris, France.
Jennifer T LoudClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Jan LubińskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Siranoush ManoukianUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Austin MillerNRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, NY, USA.
Denise Molina GomesService de Biologie de la reproduction, Cytogénétique et Génétique Médicale, CHI Poissy-Saint Germain, Poissy, France.
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Emmanuelle Mouret-FourmeService de Génétique, Institut Curie, Paris, France.
Katherine L NathansonBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Joanne Ngeow Yuen YieCancer Genetics Service, National Cancer Centre, Singapore, Singapore.
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.
Sue K ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.
Michael T ParsonsDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Paolo PeterlongoGenome Diagnostics Program, IFOM-the FIRC Institute of Molecular Oncology, Milan, Italy.
Marion PiedmonteNRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, NY, USA.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
Johanna RantalaClinical Genetics, Karolinska Institutet, Stockholm, Sweden.
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Harvey A RischChronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA.
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Priyanka SharmaDepartment of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, USA.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, QC, Canada.
Christian F SingerDept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Zsofia StadlerClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Dominique Stoppa-LyonnetService de Génétique, Institut Curie, Paris, France.
Christian SutterInstitute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Yen Yen TanDept of OB/GYN, Medical University of Vienna, Vienna, Austria.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Soo Hwang TeoBreast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Alex TeuléHereditary Cancer Program, ONCOBELL-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
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.
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA.
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Elizabeth J van RensburgDepartment of Genetics, University of Pretoria, Arcadia, South Africa.
Ana VegaCentro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Barbara WappenschmidtCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Peter DevileeDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Christi J van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jonine L BernsteinDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Matti A RookusDivision of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Mark RobsonClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Marjanka K SchmidtDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. mk.schmidt@nki.nl.ORCID 0000-0002-2228-429X

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
Statistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Elaina Harper · 2014 to 2026
$146.4M
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
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
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
Epidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6M
Risk and penetrance of mutations from breast cancer testing panels.R01CA192393 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$6.3M
Targeting Kinesin Family Member 15 for the Treatment of CancerR01CA214545 · NCI · UNIVERSITY OF KANSAS MEDICAL CENTER · PI GODWIN, ANDREW K., ROY, ANURADHA · 2017 to 2019
$1.8M
Community Cancer Genetics and Research Training (Revision)R25CA112486 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI WEITZEL, JEFFREY N · 2005 to 2009
$1.0M
Cancer Research UK 10118Cancer Research UK 11174Cancer Research UK 20861Cancer Research UK 23382Cancer Research UK 26886Cancer Research UK A11174Cancer Research UK C12292/A11174Cancer Research UK C12292/A2086Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A 10710Cancer Research UK C1287/A16563Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C8197/A16565Department of HealthNCATS NIH HHS UL1 TR000124NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA168524NCI NIH HHS R01 CA214545NCI NIH HHS R25 CA112486NCI NIH HHS RC4 CA153828NCI NIH HHS U10 CA180822NCI NIH HHS U10 CA180868NCI NIH HHS U19 CA148065NCI NIH HHS UM1 CA164920Wellcome Trust 203477/Z/16/Z
6 · The paper itself

Abstract

purposeTo evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS

methodsWe included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS

resultsFor BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS

conclusionThe PRS

Indexed as

Breast NeoplasmsAdultBRCA1 ProteinBRCA2 ProteinFemaleGenetic Predisposition to DiseaseHeterozygoteHumansMutationRetrospective StudiesRisk FactorsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human

Identifiers

PMID34113011
PMCPMC8460445

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