Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2 Journal Article


Authors: Malone, K. E.; Begg, C. B.; Haile, R. W.; Borg, A.; Concannon, P.; Tellhed, L.; Xue, S. Y.; Teraoka, S.; Bernstein, L.; Capanu, M.; Reiner, A. S.; Riedel, E. R.; Thomas, D. C.; Mellemkjaer, L.; Lynch, C. F.; Boice, J. D.; Anton-Culver, H.; Bernstein, J. L.
Article Title: Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2
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.
Keywords: survival; radiotherapy; prevalence; prognostic-factors; women; ovarian-cancer; carriers; germline mutations; tumor characteristics; case series
Journal Title: Journal of Clinical Oncology
Volume: 28
Issue: 14
ISSN: 0732-183X
Publisher: American Society of Clinical Oncology  
Date Published: 2010-05-10
Start Page: 2404
End Page: 2410
Language: English
ACCESSION: ISI:000277389600013
DOI: 10.1200/jco.2009.24.2495
PROVIDER: wos
PMCID: PMC2881721
PUBMED: 20368571
Notes: --- - Article - "Source: Wos"
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MSK Authors
  1. Anne S Reiner
    120 Reiner
  2. Colin B Begg
    234 Begg
  3. Marinela Capanu
    206 Capanu
  4. Jonine L Bernstein
    101 Bernstein