Abstract ES3-3: Management of Women with a High Predisposition to Breast Cancer: Standard of Care

• Published in: Cancer research (Chicago, Ill.) Ill.), 2010-12, Vol.70 (24_Supplement), p.ES3-3-ES3-3
• Main Author: Domchek, SM
• Format: Article
• Language: English
• ISSN: 0008-5472; 1538-7445
• DOI: 10.1158/0008-5472.SABCS10-ES3-3

Women who have inherited germ line mutations in BRCA1 and BRCA2 are at significantly increased risk for breast and ovarian cancer. Fortunately, our understanding of the management of BRCA1 and BRCA2 mutation carriers has increased significantly in the 15 years since these genes were identified. There have been improvements in genetic testing techniques resulting in fewer “missed” BRCA1 and BRCA2 mutations, as well as a better understanding of the risks of these mutations. Incorporating breast MRI into screening results in earlier detection of breast cancer. Prophylactic mastectomy significantly reduces breast cancer risk, while improvements in reconstructive surgery allow women more options. Risk reducing salpingo-oophorectomy in BRCA1/2 mutation carriers decreases breast cancer risk, ovarian cancer risk and improves breast cancer specific-, ovarian cancer specific-and overall survival. Emerging data suggest that BRCA1/2 mutation testing can play a role in newly diagnosed breast cancer, particularly from the standpoint of surgical decision making. Finally, knowledge of BRCA1 and BRCA2 mutation status has the potential to impact decisions on systemic therapy as will be reviewed. Citation Information: Cancer Res 2010;70(24 Suppl):Abstract nr ES3-3.