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Clinical Considerations of BRCA1- and BRCA2-Mutation Carriers: A Review

DOI: 10.1155/2011/374012

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Abstract:

Individuals who carry an inherited mutation in the breast cancer 1 (BRCA1) and BRCA2 genes have a significant risk of developing breast and ovarian cancer over the course of their lifetime. As a result, there are important considerations for the clinician in the counseling, followup and management of mutation carriers. This review outlines salient aspects in the approach to patients at high risk of developing breast and ovarian cancer, including criteria for genetic testing, screening guidelines, surgical prophylaxis, and chemoprevention. 1. Introduction Research into the hereditary breast and ovarian cancer genes, breast cancer 1 (BRCA1) and BRCA2, is an area of ongoing discovery in the molecular biology of cancer. For clinicians, it can be an overwhelming challenge to keep a breast with the latest studies and incorporate the most up-to-date evidence into their practice. There are many unique considerations that should be addressed when approaching patients with a predisposition to hereditary breast and ovarian cancer, including counseling, screening, and risk-reducing strategies. It is also important to understand which high-risk patients should be referred for genetic counseling for consideration of BRCA1/2 gene testing, an approach which is often underutilized in physicians’ practices [1]. In this review, the most relevant and current studies in hereditary breast and ovarian cancer epidemiology, screening, and prevention are outlined to guide the clinician in the management of high-risk individuals. Also highlighted is the role of BRCA in sporadic breast and ovarian cancer and the emergence of novel targeted therapies such as poly(ADP-ribose) polymerase inhibitors (PARPi) in BRCA1-deficient patients. 2. Cancer Risk in BRCA1- and BRCA2-Mutation Carriers In the general population, a woman’s lifetime risk of breast cancer is 1 in 8 [2], and the risk of ovarian cancer is 1 in 70 [3]. It is estimated that a BRCA1/2 mutation is found in 2–6% of breast cancer patients [4–6] and 10–15% of epithelial ovarian cancer patients [7–9]. In all women, the prevalence of a BRCA1 mutation is 1 in 800 to 1 in 1400 and the prevalence of BRCA2 mutation is slightly lower at 1 in 450 to 1 in 800 [6, 10, 11]. The lifetime risk of breast cancer in BRCA1- and BRCA2-mutation carriers is 45–80% [12, 13]. The lifetime risk of ovarian cancer is 45–60% for BRCA1-mutation carriers and 11–35% for BRCA2-mutation carriers [12–14]. A number of studies examining the incidence of breast cancer have reported a lower likelihood amongst BRCA2-mutation carriers compared to BRCA1-mutation

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