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.

DOI: 10.1200/JCO.2009.24.2495

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@article{Malone2010PopulationbasedSO, title={Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2.}, author={Kathleen E Malone and Colin B Begg and Robert W Haile and Ake Borg and Patrick Concannon and Lina Tellhed and Shanyan Xue and Sharon Teraoka and Leslie Bernstein and Marinela Capanu and Anne S Reiner and Elyn R Riedel and Duncan C Thomas and Lene Mellemkjaer and Charles F Lynch and John D Boice and Hoda Anton-Culver and Jonine L Bernstein}, journal={Journal of clinical oncology : official journal of the American Society of Clinical Oncology}, year={2010}, volume={28 14}, pages={2404-10} }