Cited by 191BRCA gene mutations in cancerMultiple and Secondary Primary CancersBreast Lesions and Carcinomas

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Population-Based Study of the Risk of Second Primary Contralateral Breast Cancer Associated With Carrying a Mutation in BRCA1 or BRCA2

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Malone, Kathleen E., Begg, Colin B., Haile, Robert W., Borg, Ake, Concannon, Patrick, Tellhed, Lina, Xue, Shanyan, Teraoka, Sharon, Bernstein, Leslie, Capanu, Marinela, Reiner, Anne S., Riedel, Elyn R., Thomas, Duncan C., Mellemkjær, Lene, Lynch, Charles F., Boice, John D., Anton-Culver, Hoda, Bernstein, Jonine L.·2010·Journal of Clinical Oncology

DOI 10.1200/jco.2009.24.2495PMC PMC2881721

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Abstract

Purpose: Women with breast cancer diagnosed early in life comprise a substantial portion of those tested for BRCA1/BRCA2 mutations; however, little information is available on the subsequent risks of contralateral breast cancer in mutation carriers. This study assessed the risk of subsequent contralateral breast cancer associated with carrying a BRCA1 or BRCA2 mutation. Patients and Methods: In this nested case-control study, patients with contralateral breast cancer diagnosed 1 year or more after a first primary breast cancer (n = 705) and controls with unilateral breast cancer (n = 1,398) were ascertained from an underlying population-based cohort of 52,536 women diagnosed with a first invasive breast cancer before age 55 years. Interviews and medical record reviews were used to collect risk factor and treatment histories. All women were tested for BRCA1/BRCA2 mutations. Relative (rate ratios) and absolute (5- and 10-year cumulative) risks of developing contralateral breast cancer following a first invasive breast cancer were computed. Results: Compared with noncarriers, BRCA1 and BRCA2 mutation carriers had 4.5-fold (95% CI, 2.8- to 7.1-fold) and 3.4-fold (95% CI, 2.0- to 5.8-fold) increased risks of contralateral breast cancer, respectively. The relative risk of contralateral breast cancer for BRCA1 mutation carriers increased as age of first diagnosis decreased. Age-specific cumulative risks are provided for clinical guidance. Conclusion: The risks of subsequent contralateral breast cancer are substantial for women who carry a BRCA1/BRCA2 mutation. These findings have important clinical relevance regarding the assessment of BRCA1/BRCA2 status in patients with breast cancer and the counseling and clinical management of patients found to carry a mutation.

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Authors: Malone, K. E., Begg, C. B., Haile, R. W., Borg, A., Concannon, P., Tellhed, L., Xue, S., Teraoka, S., Bernstein, L., Capanu, M., Reiner, A. S., Riedel, E. R., Thomas, D. C., Mellemkjær, L., Lynch, C. F., Boice, J. D., Anton-Culver, H., & Bernstein, J. L.
Affiliations: University of Southern California (US)
From the Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA; Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY; Department of Preventive Medicine, University of Southern California, Los Angeles; Division of Cancer Etiology, Department of Population Sciences, Beckman Research Institute, City of Hope, Duarte; Department of Epidemiology, University of California at Irvine, Irvine, CA; Department of Oncology, Lund...
ORCID: Malone, Kathleen E.
Begg, Colin B.
Haile, Robert W.
Concannon, Patrick
Xue, Shanyan
Bernstein, Leslie
Capanu, Marinela
Reiner, Anne S.
Thomas, Duncan C.
Mellemkjær, Lene
Lynch, Charles F.
Boice, John D.
Bernstein, Jonine L.
Venue: Journal of Clinical Oncology
Publisher: American Society of Clinical Oncology (ASCO)
Published: 2010-05-10
Volume: 28
Issue: 14
Pages: 2404-2410
ISSN: 0732-183X (ISSN-L)
1527-7755
DOI: 10.1200/jco.2009.24.2495
PMC: PMC2881721
OpenAlex: W2107243201
Cited by: 191
References: 36
Citations by year: 2026: 5 · 2025: 8 · 2024: 12 · 2023: 9 · 2022: 4 · 2021: 5 · 2020: 18 · 2019: 5 · 2018: 10 · 2017: 14 · 2016: 19 · 2015: 16 · 2014: 11 · 2013: 17 · 2012: 20
FWCI: 9.88
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Journal of Clinical Oncology (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Lund University Publications (Lund University) (submittedVersion)
Funders: National Institute on Aging (R01AG014358)
National Cancer Institute (R01CA097397, U01CA083178, R01CA131010, R01CA129639)
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 › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
Keywords: contralateral breast cancer, BRCA1 mutation, BRCA2 mutation, hereditary breast cancer, second primary cancer risk, cumulative risk, age at first diagnosis, mutation carriers, genetic counseling, early-onset breast cancer
MeSH terms: Adult, Age Factors, Breast Neoplasms, Denmark, DNA Mutational Analysis, Female, Humans, Middle Aged, Mutation, Neoplasm Recurrence, Local, Population Surveillance, Risk Factors, Time Factors, United States, Logistic Models, Case-Control Studies, Treatment Outcome, SEER Program, Risk Assessment, BRCA1 Protein, Genetic Predisposition to Disease, BRCA2 Protein, Apoptosis Regulatory Proteins

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Population-Based Study of the Risk of Second Primary Contralateral Breast Cancer Associated With Carrying a Mutation in BRCA1 or BRCA2

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