ArticleJournal of the National Cancer Institute2022
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Registry-linked trialOpen access · hybridAbstract read
In one paragraph
Article in Journal of the National Cancer Institute, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05681416 (Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer), which is not on this map. Cited by 25 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
5.4field-weighted citation impact, top 4% 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.
Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
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- Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- MicroRNA Biogenesis Pathway Gene Variants Are Associated with Prostate Cancer Susceptibility.International journal of molecular sciences · 2026Article
- Case Report: A combination ofFrontiers in oncology · 2026Article
- A Patient-Derived Organoid Platform from TUR-P Samples Enables Precision Drug Screening in Advanced Prostate Cancer.Cancers · 2025Article
- Precision medicine in prostate cancer: individualized treatment through radiomics, genomics, and biomarkers.Cancer imaging : the official publication of the International Cancer Imaging Society · 2025Review
- Droplet Digital PCR Improves Detection ofInternational journal of molecular sciences · 2025Article
- Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.Cancer medicine · 2025Observational
- Molecular pathways in reproductive cancers: a focus on prostate and ovarian cancer.Cancer cell international · 2025Review
- A Risk Model Developed based on Homologous Recombination Deficiency Genes for Evaluating the Drug Sensitivity and Prognostic Prediction of Lung Adenocarcinoma.Current medicinal chemistry · 2025Article
- BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review.JAMA oncology · 2024Review
- Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.Cold Spring Harbor perspectives in medicine · 2024Review
- Early Prostate Cancer Deaths Among Men With Higher vs Lower Genetic Risk.JAMA network open · 2024Article
- Prostate cancer genotyping for risk stratification and precision treatment.Current urology · 2024Review
- An update on the genetic predisposition of testicular germ cell tumors.Translational andrology and urology · 2024Article
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- An Integrative Pancreatic Cancer Risk Prediction Model in the UK Biobank.Biomedicines · 2023Article
- Polygenic scores in cancer.Nature reviews. Cancer · 2023Review
- CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Family History of Prostate and Breast Cancer Integrated with a Polygenic Risk Score Identifies Men at Highest Risk of Dying from Prostate Cancer before Age 75 Years.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
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Authors and funding
169 authors at 20 institutions in 21 countries.
Daniel R BarnesCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0002-3781-7570
Valentina SilvestriDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.ORCID 0000-0003-0712-9379
Goska LeslieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0001-5756-6222
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-4591-1214
Xin YangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-0037-3790
Julian AdlardYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.ORCID 0000-0002-1693-0435
Bjarni A AgnarssonDepartment of Pathology, Landspitali University Hospital, Reykjavik, Iceland.ORCID 0000-0001-7721-9965
Munaza AhmedNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Hospital, 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
Adalgeir ArasonDepartment of Pathology, Landspitali University Hospital, Reykjavik, Iceland.ORCID 0000-0003-0480-886X
Norbert ArnoldDepartment of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.ORCID 0000-0003-4523-8808
Bernd AuberDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.ORCID 0000-0003-1880-291X
Jacopo AzzolliniUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, 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.ORCID 0000-0003-0629-2772
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-1661-3939
Julian BarwellLeicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK.
Muriel BelottiService de Génétique, Institut Curie, Paris, France.
Javier BenitezBiomedical Network on Rare Diseases (CIBERER), Madrid, Spain.ORCID 0000-0002-0923-7202
Pascaline BerthetDépartement de Biopathologie, Centre François Baclesse, Caen, France.
Susanne E BoonenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.ORCID 0000-0002-7824-2080
Åke BorgDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Aniko BozsikDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.ORCID 0000-0001-5410-9173
Angela F BradyNorth West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK.
Paul BrennanNorthern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.ORCID 0000-0003-1128-6254
Carole BrewerDepartment of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK.
Joan BrunetHereditary Cancer Program, Oncobell-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.ORCID 0000-0003-1945-3512
Agostino BucaloDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.ORCID 0000-0003-3475-1067
Saundra S BuysDepartment of Internal Medicine, Huntsman Cancer Institute at the University of Utah, Salt Lake City, UT, USA.
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.ORCID 0000-0003-0589-1829
Ian CampbellPeter MacCallum Cancer Center, Melbourne, Victoria, Australia.ORCID 0000-0002-7773-4155
Hayley CassinghamDepartment of Internal Medicine, Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, OH, USA.ORCID 0000-0001-9922-2321
Lise Lotte ChristensenDivision of Surgical Oncology, National Cancer Centre, Singapore, Singapore.
Giulia CiniDivision of Functional Onco-Genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.ORCID 0000-0002-8696-8922
Kathleen B M ClaesCentre for Medical Genetics, Ghent University, Gent, Belgium.ORCID 0000-0003-0841-7372
GEMO Study Collaborators
EMBRACE Collaborators
Jackie CookSheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
Anna CoppaDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.ORCID 0000-0001-9758-5444
Laura CortesiDepartment of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy.ORCID 0000-0001-8950-8561
Giuseppe DamanteDepartment of Medicine, University of Udine, Udine, Italy.
Esther DarderHereditary Cancer Program, Oncobell-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.ORCID 0000-0002-7764-1397
Rosemarie DavidsonDepartment of Clinical Genetics, South Glasgow University Hospitals, 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
Kim De LeeneerCentre for Medical Genetics, Ghent University, Gent, Belgium.
Robin de PutterCentre for Medical Genetics, Ghent University, Gent, Belgium.ORCID 0000-0001-9410-8941
Jesús Del ValleHereditary Cancer Program, Oncobell-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.ORCID 0000-0003-3607-7045
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.ORCID 0000-0002-5914-7272
Alan DonaldsonClinical Genetics Department, St Michael's Hospital, Bristol, UK.ORCID 0000-0001-9193-4172
Jacqueline EasonNottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.ORCID 0000-0002-8711-8671
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.ORCID 0000-0002-7247-282X
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.
Florentia FostiraMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece.ORCID 0000-0003-2751-2332
Megan FroneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0001-8273-8866
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
David GallagherAcademic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire.
Andrea GehrigDepartment of Human Genetics, University Würzburg, Würzburg, Germany.
Sophie GiraudService de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
Gord GlendonFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.ORCID 0000-0001-8630-6673
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
Helen GregoryNorth of Scotland Regional Genetics Service, NHS Grampian & University of Aberdeen, Foresterhill, Aberdeen, UK.
Eva GrossDepartment of Gynecology and Obstetrics, University of Munich, Munich, Germany.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0003-2448-7872
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.
Helen HansonSouthwest Thames Regional Genetics Service, St George's Hospital, London, UK.ORCID 0000-0002-3303-8713
Julia HentschelInstitute of Human Genetics, University Hospital Leipzig, Leipzig, Germany.
Judit HorvathInstitute of Human Genetics, University of Münster, Münster, Germany.
KConFab Investigators
HEBON Investigators
Louise IzattClinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.ORCID 0000-0003-1258-4843
Angel IzquierdoHereditary Cancer Program, Oncobell-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.ORCID 0000-0003-2004-3246
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, Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
Uffe Birk JensenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
Oskar Th JohannssonDepartment of Oncology, Landspitali University Hospital, Reykjavik, Iceland.
Esther M JohnDepartment of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0003-3259-8003
Gero KramerDepartment of Urology, Medical University of Vienna, Vienna, Austria.
Lone KroeldrupDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.ORCID 0000-0003-3623-6536
Torben A KruseDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.ORCID 0000-0002-2460-6483
Charlotte LautrupDepartment of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
Conxi LazaroHereditary Cancer Program, Oncobell-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.ORCID 0000-0002-7198-5906
Fabienne LesueurInstitut Curie, Paris, France.ORCID 0000-0001-7404-4549
Adria Lopez-FernándezHereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Hospital Campus, Barcelona, Spain.
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 di Milano, Milan, Italy.
Zoltan MatraiDepartment of Surgery, National Institute of Oncology, Budapest, Hungary.ORCID 0000-0001-8160-7100
Laura MatricardiImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Kara N MaxwellDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Noura MebiroukInstitut Curie, Paris, France.
Alfons MeindlDepartment of Gynecology and Obstetrics, University of Munich, Munich, Germany.
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.ORCID 0000-0002-4929-2150
Alvaro N MonteiroDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.ORCID 0000-0002-8448-4801
Patrick J MorrisonNorthern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK.ORCID 0000-0002-2823-1762
Taru A MuranenDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-5895-1808
Alex MurrayAll Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK.
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
Tu Nguyen-DumontPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.ORCID 0000-0002-6217-0182
Dieter NiederacherDepartment of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.ORCID 0000-0001-6231-9226
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.
Domenico PalliCancer Risk Factors and Life-Style Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence, Italy.ORCID 0000-0002-5558-2437
Michael T ParsonsDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-3242-8477
Inge Sokilde PedersenClinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.
Bernard PeisselUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Pedro Perez-SeguraMolecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.ORCID 0000-0001-5049-7199
Paolo PeterlongoGenome Diagnostics Program, IFOM-the FIRC Institute of Molecular Oncology, Milan, Italy.ORCID 0000-0001-6951-6855
Annabeth H PetersenDepartment of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
Pedro PintoDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.ORCID 0000-0001-6289-5792
Mary E PorteousSouth East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, UK.
Caroline PottingerAll Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK.ORCID 0000-0003-4233-882X
Miquel Angel PujanaTranslational Research Laboratory, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
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.
Mark RobsonClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0002-3109-1692
Mark T RogersAll Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK.
Karina RønlundDepartment of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
Andreas RumpInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.ORCID 0000-0001-7116-6364
Ana María Sánchez de AbajoServicio de Análisis Clínicos y Bioquímica Clínica, Complejo Hospitalario Universitario Insular Materno-Infantil de Gran Canaria , Las Palmas de Gran Canaría, Spain.
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.ORCID 0000-0002-9564-4890
Lucy E SidePrincess Anne Hospital, Southampton, UK.
Christian F SingerDepartment 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.
Linda SteeleDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.ORCID 0000-0003-3628-2022
Dominique Stoppa-LyonnetService de Génétique, Institut Curie, Paris, France.ORCID 0000-0002-5438-8309
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.ORCID 0000-0002-4896-5982
Alex TeuléHereditary Cancer Program, Oncobell-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Darcy L ThullDepartment of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.ORCID 0000-0001-7999-2804
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
Stefania TommasiIRCCS Istituto Tumori Giovanni Paolo II, Bari, Italy.ORCID 0000-0002-2157-2978
Angela TossDepartment of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy.ORCID 0000-0002-1854-6701
Alison H TrainerParkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Vishakha TripathiClinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.ORCID 0000-0001-8118-8364
Virginia ValentiniDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.ORCID 0000-0003-3393-7185
Christi J van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0002-1436-7650
Marta VenturelliDepartment of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy.ORCID 0000-0003-0658-8004
Alessandra VielDivision of Functional Onco-Genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.ORCID 0000-0003-2804-0840
Joseph VijaiClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0002-7933-151X
Lisa WalkerOxford Regional Genetics Service, Churchill Hospital, Oxford, UK.
Shan Wang-GohrkeDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Barbara WappenschmidtCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Anna WhaiteLiverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.ORCID 0000-0003-4485-0341
Ines ZannaCancer Risk Factors and Life-Style Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence, Italy.
Kenneth OffitClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, QC, Canada.ORCID 0000-0001-6906-3390
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-2444-3247
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-1878-2587
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Laura OttiniDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.ORCID 0000-0001-8030-0449
Consortium of Investigators of Modifiers of BRCA1 and BRCA2
University of Cambridge · GBInstitut d'Investigació Biomédica de Bellvitge · ESMemorial Sloan Kettering Cancer Center · USUniversity of Modena and Reggio Emilia · ITUniversity of Cologne · DEGhent University · BEReykjavík University · ISThe University of Melbourne · AUUniversity Hospital of Wales · GBGuy's and St Thomas' NHS Foundation Trust · GBInserm · FRQIMR Berghofer Medical Research Institute · AUUniversity of Helsinki · FIAalborg University Hospital · DKMount Sinai Hospital · CAOdense University Hospital · DKSapienza University of Rome · ITUniversity of Pittsburgh · USCity of Hope · USDélégation Paris 5 · FR
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3MTranslational Therapeutics Research Program (TT)P30CA016058 · NCI · OHIO STATE UNIVERSITY · PI Tasleem J Padamsee · 1985 to 2026
$132.3MUtah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0MUsing Integrated Omics to Identify Dysfunctional Genetic Mechanisms Influencing Schizophrenia and Sleep DisturbancesP20GM130423 · NIGMS · UNIVERSITY OF KANSAS MEDICAL CENTER · PI ANDREW K. GODWIN · 2019 to 2026
$21.5MCancer Research UK 11174Cancer Research UK 16563Cancer Research UK 20861Cancer Research UK 23382Cancer Research UK 26886NCATS NIH HHS UL1 TR002538NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA016058NIGMS NIH HHS P20 GM130423
Abstract
backgroundRecent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.
methods483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.
resultsPRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.
conclusionsPopulation-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
Indexed as
Breast NeoplasmsProstatic NeoplasmsAged, 80 and overBRCA1 ProteinBRCA2 ProteinGenetic Predisposition to DiseaseHeterozygoteHumansMaleMutationPolymorphism, Single NucleotideRisk AssessmentRisk FactorsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human
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Registered trials
NCT05681416ClinicalTrials.gov
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.