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Breast Cancer after Prophylactic Bilateral Mastectomy in Women with a BRCA1 or BRCA2 Mutation
Open accessAbstract
BACKGROUND: Women with a BRCA1 or BRCA2 mutation have a high risk of breast cancer and may choose to undergo prophylactic bilateral total mastectomy. We investigated the efficacy of this procedure in such women. METHODS: We conducted a prospective study of 139 women with a pathogenic BRCA1 or BRCA2 mutation who were enrolled in a breast-cancer surveillance program at the Rotterdam Family Cancer Clinic. At the time of enrollment, none of the women had a history of breast cancer. Seventy-six of these women eventually underwent prophylactic mastectomy, and the other 63 remained under regular surveillance. The effect of mastectomy on the incidence of breast cancer was analyzed by the Cox proportional-hazards method in which mastectomy was modeled as a time-dependent covariate. RESULTS: No cases of breast cancer were observed after prophylactic mastectomy after a mean (+/-SE) follow-up of 2.9+/-1.4 years, whereas eight breast cancers developed in women under regular surveillance after a mean follow-up of 3.0+/-1.5 years (P=0.003; hazard ratio, 0; 95 percent confidence interval, 0 to 0.36). The actuarial mean five-year incidence of breast cancer among all women in the surveillance group was 17+/-7 percent. On the basis of an exponential model, the yearly incidence of breast cancer in this group was 2.5 percent. The observed number of breast cancers in the surveillance group was consistent with the expected number (ratio of observed to expected cases, 1.2; 95 percent confidence interval, 0.4 to 3.7; P=0.80). CONCLUSIONS: In women with a BRCA1 or BRCA2 mutation, prophylactic bilateral total mastectomy reduces the incidence of breast cancer at three years of follow-up.
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“Studies on PM consistently show a risk reduction of breast cancer of at least 90% [1,2]”
From Standard psychological consultations and follow up for women at increased risk of hereditary breast cancer considering prophylactic mastectomy (2009) · cites this paper as [2]
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“which has been shown to reduce the incidence of breast cancer by approximately 90% [57-59]”
From Screening, Risk Reduction Strategies, and Clinical Management of Unaffected Carriers of BRCA1 or BRCA2 Pathogenic Variants (2026) · cites this paper as [58]
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BackgroundMethodResultInfluentialSelf-citationCancer genetics or cancer genomics in the era of genomic medicine?
Daly, P. A. (2003) · Annals of Oncology · doi:10.1093/annonc/mdg743 · Cited by 3
“In recent years a number of studies have proven the efficacy of prophylactic mastectomy for women who are at high-risk, including BRCA mutation carriers [29, 30].”
BackgroundEthical, Legal, and Social Implications
Riper, M. L. V. (2006) · Humana Press eBooks · doi:10.1007/978-1-59259-963-9_9 · Cited by 3
Risk assessment and management
Evans, D. G. (2009) · Elsevier eBooks · doi:10.1016/b978-0-7020-2774-1.00024-4 · Cited by 3
McEwen, A. (2011) · Otago University Research Archive (University of Otago) · Cited by 3
Kaklamani, V., & O'Regan, R. M. (2002) · American Journal of Cancer · doi:10.2165/00024669-200201030-00002 · Cited by 3
Editor's Comment: Questions Raised by BRCA1/2 -Carrier Screening Programs
Gilbert, F. (2002) · Genetic Testing · doi:10.1089/10906570260199302 · Cited by 3
Serum Proteomics for BRCA1-associated Breast Cancer
Meric‐Bernstam, F. (2004) · Annals of Surgical Oncology · doi:10.1245/aso.2004.08.909 · Cited by 3
Kjemoprevensjon av munnhulekreft
Sudbø, J. (2003) · Den norske tannlegeforenings Tidende · doi:10.56373/2003-07-2 · Cited by 3
Pattern Anlysis of Risk-Reducing Strategies in Unaffected Korean BRCA1/2 Mutation Carriers
Kim, D., Ryu, J. M., Han, S., Kim, Z., & Kim, S. (2024) · Current Oncology · doi:10.3390/curroncol31110499 · Cited by 2
Refining BRCA1 and BRCA2 penetrance estimates in the clinic
Domchek, S. M. (2009) · Current Breast Cancer Reports · doi:10.1007/s12609-009-0018-0 · Cited by 2
Counterpoint: Angelina's choice-or the choice of anyone else in her place
Parikh, P. (2014) · South Asian Journal of Cancer · doi:10.4103/2278-330x.126534 · Cited by 2
Heisey, R., & Carroll, J. C. (2016) · PubMed Central · Cited by 13
Randomized Controlled Trials in Hereditary Cancer Syndromes
Ramamurthy, C., Chertock, Y., & Hall, M. J. (2017) · Surgical Oncology Clinics of North America · doi:10.1016/j.soc.2017.05.011 · Cited by 2
Schotch, P. Κ., & Sherwin, S. (2006) · University of Toronto Press eBooks · doi:10.3138/9781442684294 · Cited by 2
RESPONSE: Re: Risk-Reduction Mastectomy: Clinical Issues and Research Needs
Stefanek, M. E., Hartmann, L. C., & Nelson, W. (2002) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/94.4.307-a · Cited by 2
Secuelas de mastectomía subcutánea profiláctica: caso clínico
Gutiérrez Gómez, C., León, B. R., & Mejía, A. C. (2008) · Cirugía Plástica Ibero-Latinoamericana · doi:10.4321/s0376-78922008000400007 · Cited by 2
Genetics for the General Internist
Laukaitis, C. M. (2011) · The American Journal of Medicine · doi:10.1016/j.amjmed.2011.07.034 · Cited by 2
“Risk-reducing surgical options include bilateral modified radical mastectomy which can be followed by reconstructive surgery and reduces breast cancer risk by 90%[25–27].”
BackgroundAlvarenga, M., Cotta, A., Dufloth, R. M., & Schmitt, F. C. (2003) · Jornal Brasileiro de Patologia e Medicina Laboratorial · doi:10.1590/s1676-24442003000200013 · Cited by 2
The Role of DNA Testing in Breast, Ovarian, and Colon Cancers
Friedrich, C. A. (2003) · The American Journal of the Medical Sciences · doi:10.1097/00000441-200303000-00004 · Cited by 2
Dépistage du cancer du sein par IRM chez les femmes porteuses d’une mutation génétique
Daguet, E., Malhaire, C., Hardit, C., Athanasiou, A., Khoury, C. E., Thibault, F. E., Ollivier, L., Tardivon, A. A., & Tardivon, A. A. (2008) · Journal de Radiologie · doi:10.1016/s0221-0363(08)73784-3 · Cited by 2
Cothier-Savey, I., & Rimareix, F. (2012) · EMC - Techniques chirurgicales - Chirurgie plastique reconstructrice et esthétique · doi:10.1016/s1286-9325(12)56411-3 · Cited by 2
Risk-reduction surgery in BRCA mutation carriers in a Spanish population: adherence and results
Segura, P. P., Jiménez, P., Olivera, H., Conejero, R. A., Caldés, T., de la Hoya, M., Román, J. M. S. S., Moreno, A., Puente, J., & Díaz‐Rubio, E. (2008) · Clinical & Translational Oncology · doi:10.1007/s12094-008-0267-9 · Cited by 2
Metadata
- Authors
- Meijers-Heijboer, H., van Geel, B., van Putten, W. L. J., Henzen-Logmans, S. C., Seynaeve, C., Menke-Pluymers, M. B. E., Bartels, C. C. M., Verhoog, L. C., van den Ouweland, A. M. W., Niermeijer, M. F., Brekelmans, C. T. M., & Klijn, J. G. M.
- Affiliations
- Erasmus MC (NL)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2001-07-19
- Volume
- 345
- Issue
- 3
- Pages
- 159-164
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2046809735
- Cited by
- 973
- References
- 33
- Citations by year
- 2026: 15 · 2025: 14 · 2024: 14 · 2023: 18 · 2022: 18 · 2021: 24 · 2020: 23 · 2019: 30 · 2018: 21 · 2017: 37 · 2016: 42 · 2015: 28 · 2014: 34 · 2013: 29 · 2012: 42
- FWCI
- 35.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (acceptedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Women's cancer prevention and management
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Keywords
- breast cancer, bilateral prophylactic mastectomy, BRCA1 mutation, BRCA2 mutation, hereditary breast cancer, breast cancer incidence, breast cancer surveillance, genetic susceptibility to cancer
- MeSH terms
- Adult, Breast Neoplasms, Female, Humans, Middle Aged, Mutation, Neoplasm Proteins, Prospective Studies, Transcription Factors, Mastectomy, Simple, Proportional Hazards Models, Genes, BRCA1, BRCA2 Protein
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