Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
Open accessAbstract
Importance: The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. Objectives: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location. Design, Setting, and Participants: Prospective cohort study of 6036 BRCA1 and 3820 BRCA2 female carriers (5046 unaffected and 4810 with breast or ovarian cancer or both at baseline) recruited in 1997-2011 through the International BRCA1/2 Carrier Cohort Study, the Breast Cancer Family Registry and the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, with ascertainment through family clinics (94%) and population-based studies (6%). The majority were from large national studies in the United Kingdom (EMBRACE), the Netherlands (HEBON), and France (GENEPSO). Follow-up ended December 2013; median follow-up was 5 years. Exposures: BRCA1/2 mutations, family cancer history, and mutation location. Main Outcomes and Measures: Annual incidences, standardized incidence ratios, and cumulative risks of breast, ovarian, and contralateral breast cancer. Results: Among 3886 women (median age, 38 years; interquartile range [IQR], 30-46 years) eligible for the breast cancer analysis, 5066 women (median age, 38 years; IQR, 31-47 years) eligible for the ovarian cancer analysis, and 2213 women (median age, 47 years; IQR, 40-55 years) eligible for the contralateral breast cancer analysis, 426 were diagnosed with breast cancer, 109 with ovarian cancer, and 245 with contralateral breast cancer during follow-up. The cumulative breast cancer risk to age 80 years was 72% (95% CI, 65%-79%) for BRCA1 and 69% (95% CI, 61%-77%) for BRCA2 carriers. Breast cancer incidences increased rapidly in early adulthood until ages 30 to 40 years for BRCA1 and until ages 40 to 50 years for BRCA2 carriers, then remained at a similar, constant incidence (20-30 per 1000 person-years) until age 80 years. The cumulative ovarian cancer risk to age 80 years was 44% (95% CI, 36%-53%) for BRCA1 and 17% (95% CI, 11%-25%) for BRCA2 carriers. For contralateral breast cancer, the cumulative risk 20 years after breast cancer diagnosis was 40% (95% CI, 35%-45%) for BRCA1 and 26% (95% CI, 20%-33%) for BRCA2 carriers (hazard ratio [HR] for comparing BRCA2 vs BRCA1, 0.62; 95% CI, 0.47-0.82; P=.001 for difference). Breast cancer risk increased with increasing number of first- and second-degree relatives diagnosed as having breast cancer for both BRCA1 (HR for ≥2 vs 0 affected relatives, 1.99; 95% CI, 1.41-2.82; P<.001 for trend) and BRCA2 carriers (HR, 1.91; 95% CI, 1.08-3.37; P=.02 for trend). Breast cancer risk was higher if mutations were located outside vs within the regions bounded by positions c.2282-c.4071 in BRCA1 (HR, 1.46; 95% CI, 1.11-1.93; P=.007) and c.2831-c.6401 in BRCA2 (HR, 1.93; 95% CI, 1.36-2.74; P<.001). Conclusions and Relevance: These findings provide estimates of cancer risk based on BRCA1 and BRCA2 mutation carrier status using prospective data collection and demonstrate the potential importance of family history and mutation location in risk assessment.
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BRCA1 mutation carriers have an actual greater cancer risk than BRCA2 mutation carriers.
“BRCA1 mutation carriers have an actual greater cancer risk than BRCA2 mutation carriers [33, 56].”
From Fear of cancer recurrence in breast cancer survivors carrying a BRCA1 or 2 genetic mutation : a cross-sectional study (2024) · cites this paper as [56]
Carriers of BRCA1 mutation may have higher risk of both breast and ovarian cancers.
“Carriers of BRCA1 mutation may have higher risk of both breast and ovarian cancers [13].”
From Screening, Risk Reduction Strategies, and Clinical Management of Unaffected Carriers of <i>BRCA1</i> or <i>BRCA2</i> Pathogenic Variants (2026) · cites this paper as [13]
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“BRCA1 mutation carriers have an actual greater cancer risk than BRCA2 mutation carriers [33, 56].”
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- Authors
- Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Phillips, K.-A., Mooij, T. M., Roos-Blom, M.-J., Jervis, S., van Leeuwen, F. E., Milne, R. L., Andrieu, N., Goldgar, D. E., Terry, M. B., Rookus, M. A., Easton, D. F., Antoniou, A. C., and the BRCA1 and BRCA2 Cohort Consortium, McGuffog, L., Evans, D. G., Barrowdale, D., Frost, D., Adlard, J., Ong, K.-R., Izatt, L., Tischkowitz, M., Eeles, R., Davidson, R., Hodgson, S., Ellis, S., Nogues, C., Lasset, C., Stoppa-Lyonnet, D., Fricker, J.-P., Faivre, L., Berthet, P., Hooning, M. J., van der Kolk, L. E., Kets, C. M., Adank, M. A., John, E. M., Chung, W. K., Andrulis, I. L., Southey, M., Daly, M. B., Buys, S. S., Osorio, A., Engel, C., Kast, K., Schmutzler, R. K., Caldes, T., Jakubowska, A., Simard, J., Friedlander, M. L., McLachlan, S.-A., Machackova, E., Foretova, L., Tan, Y. Y., Singer, C. F., Olah, E., Gerdes, A.-M., Arver, B., & Olsson, H.
- Affiliations
- University of Cambridge (GB)
- The University of Melbourne (AU)
- The Netherlands Cancer Institute (NL)
- Amsterdam UMC Location University of Amsterdam (NL)
- Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands
- Inserm (FR)
- University of Utah (US)
- Columbia University (US)
- Manchester Academic Health Science Centre (GB)
- Chapel Allerton Hospital (GB)
- Birmingham Women's Hospital (GB)
- Guy's Hospital (GB)
- Oncogenetics Team, Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, England
- University of Glasgow (GB)
- St George's, University of London (GB)
- Oncogénétique Clinique, Hôpital René Huguenin/Institut Curie, Saint-Cloud, France
- Centre Léon Bérard (FR)
- Institut Curie, Department of Tumour Biology, Paris, France28Institut Curie, INSERM U830, Paris, France29Université Paris Descartes, Sorbonne Paris Cité, Paris, France
- Institut Strauss (FR)
- Centre Georges François Leclerc (FR)
- Centre François Baclesse (FR)
- Erasmus MC Cancer Institute (NL)
- Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands
- Radboud University Medical Center (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Cancer Prevention Institute of California (US)
- University of Toronto (CA)
- Fox Chase Cancer Center (US)
- Huntsman Cancer Institute (US)
- Human Genetics Group, Spanish National Cancer Centre, Madrid, Spain46Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain
- Leipzig University (DE)
- German Cancer Research Center (DE)
- University of Cologne (DE)
- Molecular Oncology Laboratory, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria San Carlos, Madrid, Spain
- Pomeranian Medical University (PL)
- Centre hospitalier universitaire de Québec (CA)
- UNSW Sydney (AU)
- Peter MacCallum Cancer Centre (AU)
- Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic
- QIMR Berghofer Medical Research Institute (AU)
- Comprehensive Cancer Center Vienna (AT)
- Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
- Copenhagen University Hospital (DK)
- Karolinska Institutet (SE)
- Department of Oncology, Lund University Hospital, Lund, Sweden
- Corresponding author
- Antoniou, Antonis C.
- ORCID
- Kuchenbaecker, Karoline B.
- Hopper, John L.
- Barnes, Daniel R.
- Phillips, Kelly-Anne
- Mooij, Thea M.
- Milne, Roger L.
- Andrieu, Nadine
- Terry, Mary Beth
- Rookus, Matti A.
- Easton, Douglas F.
- Antoniou, Antonis C.
- Evans, D. Gareth
- Barrowdale, Daniel
- Adlard, Julian
- Izatt, Louise
- Tischkowitz, Marc
- Hodgson, Shirley
- Lasset, Christine
- Fricker, Jean-Pierre
- Faivre, Laurence
- Hooning, Maartje J.
- Adank, Muriel A.
- John, Esther M.
- Chung, Wendy K.
- Andrulis, Irene L.
- Southey, Melissa
- Buys, Saundra S.
- Engel, Christoph
- Jakubowska, Anna
- Simard, Jacques
- Friedlander, Michael L.
- McLachlan, Sue-Anne
- Tan, Yen Y.
- Singer, Christian F.
- Gerdes, Anne-Marie
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2017-06-20
- Volume
- 317
- Issue
- 23
- Pages
- 2402
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- OpenAlex
- W2627871710
- Cited by
- 2,954
- References
- 31
- Citations by year
- 2026: 307 · 2025: 339 · 2024: 362 · 2023: 368 · 2022: 380 · 2021: 368 · 2020: 348 · 2019: 286 · 2018: 150 · 2017: 39 · 2014: 1
- FWCI
- 149.76
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- JAMA (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion)
- Pure Amsterdam UMC (acceptedVersion, other-oa)
- Research Explorer (The University of Manchester) (acceptedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Univerzita Karlova v Praze (UNCE204024)
- Université Laval
- Fundación Mutua Madrileña (110837, C1287/A10118, C12292/A11174, SAF2010-20493, PBZ_KBN_122/P05/2004, ERC-2011-294576)
- Central Manchester University Hospitals NHS Foundation Trust
- Deutsches Krebsforschungszentrum (C12292/A11174)
- Royal Marsden NHS Foundation Trust
- QIMR Berghofer Medical Research Institute
- Cancer Research UK (11174, ERC-2011-294576, C1287‐A10118, 12677, A10118, 20493, C12292/A11174, A11174, 110837, 17523, C1287, A20861, A8385, PBZ_KBN_122/P05/2004, 20861, C12292, A11990, 16563, C5047, C5047/A8385, 17528, C1287/A11990, C12292/A20861, 23382)
- National Institute for Health and Care Research (110837, NF-SI-0510-10096, PBZ_KBN_122/P05/2004, C1287/A10118, NF-SI-0513-10076, ERC-2011-294576, C5047/A8385, C12292/A11174)
- European Commission (809195, ERC-2011-294576, 110837, 288704)
- National Breast Cancer Foundation (809195, C12292/A11174, 110837, ERC-2011-294576, C1287/A16563, PSR-SIIRI-701, CRN-87521, UM1 CA164920, C1287/A10118, PBZ_KBN_122/P05/2004)
- Cancer Australia (809195)
- University of New South Wales
- University of Melbourne
- Ministerstvo Školství, Mládeže a Tělovýchovy (00209805, LO1413)
- Cancerfonden (ERC-2011-294576)
- Gentofte Hospital
- Universität Wien
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (184021007, 91109024, 12-054, 110005, 20493, 2014-187, 184.021.007/CP46, NWO 184.021.007)
- Lunds Universitet
- Ministerio de Economía y Competitividad (C12292/A11174, ERC-2011-294576, 110837, SAF2014-57680-R, C1287/A10118, PBZ_KBN_122/P05/2004)
- Karolinska Institutet (C12292/A11174)
- Peter MacCallum Cancer Centre
- Fondation de France (110837, C1287/A10118, PBZ_KBN_122/P05/2004, C12292/A11174, ERC-2011-294576)
- Centre Hospitalier Universitaire de Québec
- Medizinische Universität Wien
- Deutsche Krebshilfe ((#110837, C12292/A11174, PBZ_KBN_122/P05/2004, ERC-2011-294576, C1287/A10118)
- Institut National Du Cancer (110837, C1287/A10118, C12292/A11174, JTC 2012, PBZ_KBN_122/P05/2004, ERC-2011-294576)
- Universität zu Köln
- Universität Leipzig
- Pomorski Uniwersytet Medyczny W Szczecinie
- Deutschen Konsortium für Translationale Krebsforschung
- Universitätsklinikum Köln
- Freistaat Sachsen
- National Health and Medical Research Council (454508, 145684, 288704)
- European Regional Development Fund (PBZ_KBN_122/P05/2004, 00209805, NWO 184.021.007)
- National Cancer Institute (UM1CA164920, R01CA159868)
- FP7 Ideas: European Research Council (310018)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
- Health Sciences › Medicine › Oncology › Cancer Risks and Factors
- Keywords
- BRCA1 mutation carriers, BRCA2 mutation carriers, hereditary breast cancer, hereditary ovarian cancer, contralateral breast cancer, cancer risk assessment, age-specific risk, family history of cancer, mutation location, germline mutations, cumulative risk, risk factor control
- MeSH terms
- Adult, Age Factors, Aged, Aged, 80 and over, Breast Neoplasms, Family, Female, Humans, Middle Aged, Mutation, Ovarian Neoplasms, Prospective Studies, Time Factors, Incidence, Neoplasms, Second Primary, Age Distribution, Risk Assessment, Genes, BRCA1, Genes, BRCA2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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