ArticleBritish journal of cancer2023
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
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15 citing papers in PubMed.
- Clinical impact of ENIGMA-based variant reclassification on genotype-phenotype analyses in BRCA1- and BRCA2-associated hereditary breast and ovarian cancer.Breast cancer (Tokyo, Japan) · 2026Article
- Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.American journal of human genetics · 2026Article
- Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification.EBioMedicine · 2026Article
- Cancer genomic profiling predicts pathogenicity ofmedRxiv : the preprint server for health sciences · 2026Article
- Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.NPJ genomic medicine · 2025Article
- A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.Genome medicine · 2025Review
- The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-inducedGenome research · 2025Article
- Advances in Systemic Therapy for Ovarian Cancer Over the Past Decade: A Clinical and Molecular Perspective.Medical science monitor : international medical journal of experimental and clinical research · 2025Review
- A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.NPJ genomic medicine · 2025Article
- Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants.American journal of human genetics · 2025Article
- Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.American journal of human genetics · 2024Article
- Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.American journal of human genetics · 2024Article
- Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.Cancer medicine · 2024Article
- Global characterization of RNA editing in genetic regulation of multiple ovarian cancer subtypes.Molecular therapy. Nucleic acids · 2024Article
- Diagnosis progress of carcinoma of unknown primary.Frontiers in oncology · 2024Review
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Authors and funding
93 authors.
Denise G O'MahonyBiostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, 2371, Cyprus.ORCID http://orcid.org/0000-0002-7212-0920
Susan J RamusSchool of Clinical Medicine, University of New South Wales Medicine and Health, University of New South Wales Sydney, Sydney, NSW, 2052, Australia.ORCID http://orcid.org/0000-0003-0005-7798
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia.
Nicola S MeagherSchool of Clinical Medicine, University of New South Wales Medicine and Health, University of New South Wales Sydney, Sydney, NSW, 2052, Australia.ORCID http://orcid.org/0000-0001-9134-2118
Andreas HadjisavvasDepartment of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, 2371, Cyprus.
Esther M JohnDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, 69120, Germany.
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St. Petersburg, 197758, Russia.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, M5G 1×5, Canada.ORCID http://orcid.org/0000-0002-4226-6435
Priyanka SharmaDepartment of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, 66205, USA.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, 19111, USA.
Christopher R HakeWaukesha Memorial Hospital-Pro Health Care, Waukesha, WI, 53188, USA.
Jeffrey N WeitzelThe University of Kansas Cancer Center, Kansas City, MO, 66160, USA.ORCID http://orcid.org/0000-0001-6714-092X
Anna JakubowskaDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, 171-252, Poland.ORCID http://orcid.org/0000-0002-5650-0501
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, The University of Kansas Medical Center, Kansas City, KS, 66160, USA.ORCID http://orcid.org/0000-0002-3987-9580
Adalgeir ArasonDepartment of Pathology, Landspitali University Hospital, Reykjavik, 101, Iceland.ORCID http://orcid.org/0000-0003-0480-886X
Anita BaneDepartment of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, Hamilton, ON, L8V 1C3, Canada.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, G1V 4G2, Canada.ORCID http://orcid.org/0000-0001-6906-3390
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, G1V 4G2, Canada.
Maria A CaligoSOD Genetica Molecolare, University Hospital, Pisa, 56126, Italy.
Phuong L MaiMagee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213, USA.
Kathleen B M ClaesCentre for Medical Genetics, Ghent University, Gent, 9000, Belgium.
Manuel R TeixeiraDepartment of Laboratory Genetics, Portuguese Oncology Institute of Porto (IPO Porto)/Comprehensive Cancer Center, Porto, 4200-072, Portugal.ORCID http://orcid.org/0000-0002-4896-5982
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY, 10032, USA.ORCID http://orcid.org/0000-0003-3438-5685
Conxi LazaroHereditary Cancer Program, ONCOBELL-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, 08908, Spain.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, 60201, USA.ORCID http://orcid.org/0000-0001-8397-4078
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, 43210, USA.ORCID http://orcid.org/0000-0002-0271-1792
Inge Sokilde PedersenMolecular Diagnostics, Aalborg University Hospital, Aalborg, 9000, Denmark.ORCID http://orcid.org/0000-0002-9902-8040
HEBON Investigators
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, 91010, USA.ORCID http://orcid.org/0000-0001-5053-0390
Ana VegaCentro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, 28029, Spain.ORCID http://orcid.org/0000-0002-7416-5137
Miguel de la HoyaMolecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, 28040, Spain.ORCID http://orcid.org/0000-0002-8113-1410
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, 00290, Finland.ORCID http://orcid.org/0000-0002-0916-2976
Mallika DhawanCancer Genetics and Prevention Program, University of California San Francisco, San Francisco, CA, 94143-1714, USA.
Valentina ZampigaBiosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Meldola, Italy.
Rita DanesiRomagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Meldola, 47014, Italy.
Liliana VarescoUnit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy.
Viviana GismondiUnit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy.
Valerio Gaetano VelloneUnit of Pathology, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy.
Paul A JamesDepartment of Gynecology and Obstetrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, 14049-900, Brazil.
Ramunas JanaviciusFaculty of Medicine, Institute of Biomedical Sciences, Department of Human and Medical Genetics, Vilnius University, Vilnius, LT-03101, Lithuania.
Liene Nikitina-ZakeLatvian Biomedical Research and Study Centre, Riga, LV-1067, Latvia.
Finn Cilius NielsenCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, DK-2100, Denmark.
Thomas van Overeem HansenDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, DK-2100, Denmark.
Tanja PejovicDepartment of Obstetrics and Gynecology, Oregon Health & Science University, Portland, OR, 97239, USA.
Ake BorgDepartment of Oncology, Lund University and Skåne University Hospital, Lund, 222 41, Sweden.
Johanna RantalaClinical Genetics, Karolinska Institutet, Stockholm, 171 76, Sweden.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, 35128, Italy.
Katherine L NathansonBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, 19066, USA.ORCID http://orcid.org/0000-0002-6740-0901
Susan M DomchekBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, 19066, USA.
Ana OsorioHuman Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, 28029, Spain.ORCID http://orcid.org/0000-0001-8124-3984
María J GarcíaComputational Oncology Group, Structural Biology Programme, Spanish National Cancer Research Centre (CNIO), Madrid, 28029, Spain.ORCID http://orcid.org/0000-0002-2236-9912
Beth Y KarlanDavid Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, 90095, USA.ORCID http://orcid.org/0000-0002-9451-2933
GEMO Study Collaborators
Anna De FazioThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0003-0057-4744
David BowtellPeter MacCallum Cancer Centre, Melbourne, VIC, 3000, Australia.
AOCS Group
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Goska LeslieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0001-5756-6222
Michael T ParsonsPopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, 30625, Germany.ORCID http://orcid.org/0000-0002-9458-0282
Lisa-Marie SpeithGynaecology Research Unit, Hannover Medical School, Hannover, 30625, Germany.
Elizabeth Santana Dos SantosService de Génétique, Institut Curie, Paris, 75005, France.
Alexandre André B A da CostaDepartment of Clinical Oncology, A.C.Camargo Cancer Center, São Paulo, 1509900, Brazil.
Paolo RadiceUnit of Preventive Medicine: Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, 20133, Italy.
Paolo PeterlongoGenome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology, Milan, 20139, Italy.ORCID http://orcid.org/0000-0001-6951-6855
Laura PapiDepartment of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, 27571, Italy.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, 04107, Germany.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.
Barbara WappenschmidtCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0003-2444-3247
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, H4A 3J1, Canada.
Christian F SingerDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, 1090, Austria.ORCID http://orcid.org/0000-0003-1294-0027
Yen Yen TanDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, 1090, Austria.
Alice S WhittemoreDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Weiva SiehDepartment of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0003-0085-1190
James D BrentonCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, CB2 0RE, UK.ORCID http://orcid.org/0000-0002-5738-6683
Drakoulis YannoukakosMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, 15310, Greece.
Florentia FostiraMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, 15310, Greece.
Irene KonstantopoulouMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, 15310, Greece.ORCID http://orcid.org/0000-0002-0470-0309
Jana SoukupovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 12000, Czech Republic.ORCID http://orcid.org/0000-0003-2413-1542
Michal VockaDepartment of Oncology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 12000, Czech Republic.ORCID http://orcid.org/0000-0002-9386-657X
CZECANCA Consortium
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0001-8494-732X
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA.
Amanda B SpurdlePopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.ORCID http://orcid.org/0000-0003-1337-7897
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, 2371, Cyprus. kyriakimi@cing.ac.cy.ORCID http://orcid.org/0000-0001-7065-1237
Consortium of Investigators of Modifiers of BRCA1/2
Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MNRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8MSWOG Network Group Operations Center of the NCTNU10CA180888 · NCI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI PRIMO N. LARA · 2014 to 2026
$152.1MStatistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI James J. Dignam, GREG YOTHERS · 2014 to 2026
$146.4MUCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MUsing 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
$21.5MBreast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7MEpidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MEpidemiological and Clinical Translational Studies Post Genome-Wide AssociationU19CA148537 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI EASTON, DOUGLAS FREDERICK, EELES, ROSALIND · 2010 to 2014
$10.4MOvarian cancer GWAS discovery, expansion and replication (N2 - Project #1)U19CA148112 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI SELLERS, THOMAS A · 2010 to 2014
$10.2MA genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8MCancer Research UK 15601Cancer Research UK 20861Cancer Research UK 22905Cancer Research UK 23382NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR001881NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA140323NCI NIH HHS R01 CA214545NCI NIH HHS R01 CA260132NCI NIH HHS R25 CA112486NCI NIH HHS RC4 CA153828NCI 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 UM1 CA164920NIGMS NIH HHS P20 GM130423
Abstract
backgroundThe distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.
methodsData for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).
resultsNo histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.
conclusionsWe provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.
Indexed as
Breast NeoplasmsOvarian NeoplasmsBRCA1 ProteinBRCA2 ProteinFemaleGenetic Predisposition to DiseaseHumansVirulenceBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human
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