MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations
Open accessAbstract
Importance: Magnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cancer. Surveillance with MRI is effective in downstaging breast cancers, but the association of MRI surveillance with mortality risk has not been well defined. Objective: To compare breast cancer mortality rates in women with a BRCA1 or BRCA2 sequence variation who entered an MRI surveillance program with those who did not. Design, Setting, and Participants: Women with a BRCA1 or BRCA2 sequence variation were identified from 59 participating centers in 11 countries. Participants completed a baseline questionnaire between 1995 and 2015 and a follow-up questionnaire every 2 years to document screening histories, incident cancers, and vital status. Women who had breast cancer, a screening MRI examination, or bilateral mastectomy prior to enrollment were excluded. Participants were followed up from age 30 years (or the date of the baseline questionnaire, whichever was later) until age 75 years, the last follow-up, or death from breast cancer. Data were analyzed from January 1 to July 31, 2023. Exposures: Entrance into an MRI surveillance program. Main Outcomes and Measures: Cox proportional hazards modeling was used to estimate the hazard ratios (HRs) and 95% CIs for breast cancer mortality associated with MRI surveillance compared with no MRI surveillance using a time-dependent analysis. Results: A total of 2488 women (mean [range] age at study entry 41.2 [30-69] years), with a sequence variation in the BRCA1 (n = 2004) or BRCA2 (n = 484) genes were included in the analysis. Of these participants, 1756 (70.6%) had at least 1 screening MRI examination and 732 women (29.4%) did not. After a mean follow-up of 9.2 years, 344 women (13.8%) developed breast cancer and 35 women (1.4%) died of breast cancer. The age-adjusted HRs for breast cancer mortality associated with entering an MRI surveillance program were 0.20 (95% CI, 0.10-0.43; P < .001) for women with BRCA1 sequence variations and 0.87 (95% CI, 0.10-17.25; P = .93) for women with BRCA2 sequence variations. Conclusion and Relevance: Results of this cohort study suggest that among women with a BRCA1 sequence variation, MRI surveillance was associated with a significant reduction in breast cancer mortality compared with no MRI surveillance. Further studies of women with BRCA2 sequence variations are needed to ascertain these women obtain the same benefits associated with MRI surveillance.
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Among women who entered an MRI-screening program, the age-adjusted HR for breast cancer mortality was 0.20 (95% CI 0.10-0.43; P < 0.001) for BRCA1 carriers.
“the age-adjusted HR for breast cancer mortality was 0.20 (95% CI: 0.10 - 0.43; P < 0.001) for women with BRCA1”
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 [37]
Among women who entered an MRI-screening program, the age-adjusted HR for breast cancer mortality was 0.87 (95% CI 0.10-17.25; P = 0.93) for BRCA2 carriers.
“and 0.87 (95% CI: 0.10 - 17.25; P = 0.93) for women with BRCA2 variants [37]”
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 [37]
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- Authors
- Lubinski, J., Kotsopoulos, J., Moller, P., Pal, T., Eisen, A., Peck, L., Karlan, B. Y., Aeilts, A., Eng, C., Bordeleau, L., Foulkes, W. D., Tung, N., Couch, F. J., Fruscio, R., Ramon y Cajal, T., Singer, C. F., Neuhausen, S. L., Zakalik, D., Cybulski, C., Gronwald, J., Huzarski, T., Stempa, K., Dungan, J., Cullinane, C., Olopade, O. I., Metcalfe, K., Sun, P., Narod, S. A., Hereditary Breast Cancer Clinical Study Group, Sweet, K., Senter, L., Saal, H., Velsher, L., Armel, S., McCuaig, J., Panchal, S., Poll, A., Lemire, E., Serfas, K., Reilly, R., Costalas, J., Cohen, S., & Blum, J.
- Affiliations
- International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
- University of Toronto (CA)
- Institute of Cancer Research, Department of Tumour Biology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
- Vanderbilt-Ingram Cancer Center (US)
- Princess Margaret Cancer Centre (CA)
- University of California, Los Angeles (US)
- The Ohio State University Wexner Medical Center (US)
- Cleveland Clinic (US)
- Juravinski Cancer Centre (CA)
- McGill University (CA)
- Beth Israel Deaconess Medical Center (US)
- Mayo Clinic (US)
- University of Milano-Bicocca (IT)
- Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
- Comprehensive Cancer Center Vienna (AT)
- City Of Hope National Medical Center (US)
- Corewell Health William Beaumont University Hospital (US)
- International Hereditary Cancer Center (PL)
- Northwestern Medicine (US)
- MemorialCare Long Beach Medical Center (US)
- University of Chicago (US)
- for the Hereditary Breast Cancer Clinical Study Group
- Corresponding author
- Narod, Steven A.
- ORCID
- Kotsopoulos, Joanne
- Pal, Tuya
- Eisen, Andrea
- Peck, Larissa
- Karlan, Beth Y.
- Aeilts, Amber
- Eng, Charis
- Bordeleau, Louise
- Foulkes, William D.
- Tung, Nadine
- Couch, Fergus J.
- Fruscio, Robert
- Singer, Christian F.
- Neuhausen, Susan L.
- Zakalik, Dana
- Cybulski, Cezary
- Gronwald, Jacek
- Huzarski, Tomasz
- Stempa, Klaudia
- Olopade, Olufunmilayo I.
- Metcalfe, Kelly
- Sun, Ping
- Narod, Steven A.
- Sweet, Kevin
- Senter, Leigha
- Saal, Howard
- Armel, Susan
- McCuaig, Jeanna
- Cohen, Stephanie
- Blum, Joanne
- Venue
- JAMA Oncology
- Publisher
- American Medical Association (AMA)
- Published
- 2024-04-01
- Volume
- 10
- Issue
- 4
- Pages
- 493
- ISSN
- 2374-2437 (ISSN-L)
- PMC
- PMC10905376
- OpenAlex
- W4394760621
- Cited by
- 82
- References
- 12
- Citations by year
- 2026: 38 · 2025: 33 · 2024: 11
- FWCI
- 21.76
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- JAMA Oncology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Dipòsit Digital de Documents de la UAB (Universitat Autònoma de Barcelona) (submittedVersion, cc-by)
- BOA (University of Milano-Bicocca) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Knowledge@UChicago (University of Chicago) (submittedVersion)
- University of Chicago (cc-by)
- Funders
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › MRI in cancer diagnosis
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Digital Radiography and Breast Imaging
- Keywords
- breast cancer mortality, MRI surveillance, BRCA1, BRCA2, germline pathogenic variants, hereditary breast cancer, breast cancer screening, lifetime cancer risk, high-risk women, bilateral mastectomy, breast cancer incidence, mortality risk reduction, risk communication
- MeSH terms
- Adult, Aged, Breast Neoplasms, Female, Humans, Magnetic Resonance Imaging, Mastectomy, Middle Aged, Mutation, Risk Management, Cohort Studies, BRCA1 Protein, Genes, BRCA1, Genes, BRCA2, BRCA2 Protein
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