Because mutations in BRCA1 and BRCA2 in women with breast cancer are associated with an increased risk of ovarian cancer, analysis of these genes should be considered for women diagnosed with breast cancer who have a high probability of carrying a mutation according to the statistical model developed with these data.

The computerized analysis of mammograms suggests that mammographic patterns in carriers of BRCA1 and BRCA2 mutations differ from those of women at low risk for breast cancer. Our computer-extracted features may be useful as radiographic markers for identifying women at high risk for breast cancer.

Purpose: To evaluate prophylactic salpingo-oophorectomy uptake and timing among BRCA1/2 mutation carriers in a cancer risk assessment program. Methods: Clinical records of female BRCA1/2 mutation carriers who received cancer genetic counseling between 1996 and 2003 were reviewed to determine the completion and the timing of prophylactic salpingo-oophorectomy. Logistic regression models evaluated associations between subject characteristics and surgery. Survival analysis methods were used to estimate the distribution of time to surgery. Results:Among 88 women, 70% underwent prophylactic salpingo-oophorectomy. Prophylactic salpingo-oophorectomy was associated with older age, white race, having children, and a family history of ovarian cancer. Many women waited more than 12 months to undergo surgery and some delayed by several years. Younger age and not having children were associated with delays to surgery. Conclusion: Prophylactic salpingo-ooporectomy is an acceptable risk reduction measure for many BRCA1/2 mutation carriers. Some women make this decision many years after genetic testing. Continued discussion of the risks and benefits of risk reduction options may facilitate the uptake of recommended risk reduction interventions among BRCA mutation carriers. Genet Med 2008:10(3):161-166. Key Words: BRCA1, BRCA2, prophylactic salpingo-oophorectomyWomen who carry a BRCA1 or BRCA2 mutation have a 31-87% risk of developing breast cancer and a 15-40% risk of developing ovarian cancer 1-4 compared with the risk in the general population of 12.5% and 1.5%, respectively. 5 In light of these risks, BRCA mutation carriers are counseled regarding available risk reduction methods, including prophylactic surgery, increased surveillance, and chemoprevention. One of these options, bilateral prophylactic salpingo-oophorectomy (BSO), has been shown to decrease the risk of ovarian cancer in BRCA mutation carriers by 85-96% and the risk of breast cancer by 50%. 6 -8 In addition, surgical morbidity and mortality has decreased with the advent of laparoscopic surgical techniques. 9 Thus, BSO is currently recommended to BRCA mutation carriers between 35 and 40 years of age or at completion of childbearing. 5,10 Despite this, many women and clinicians are concerned about the effects of premature menopause after surgical prophylaxis. 11,12 Although there is some evidence suggesting that short-term hormone replacement therapy (HRT) does not increase breast cancer risks in BRCA mutation carriers, long-term prospective data are not available and many physicians are reluctant to provide, and many women are reluctant to consider postsurgical HRT. 13 Thus, some women elect not to undergo BSO and receive ovarian cancer surveillance with transvaginal ultrasound, serum CA-125, and clinical pelvic examination, although studies have suggested that the ability to detect early cancers with such screening is poor. 14,15 Despite these recommendations and considering the controversy surrounding postsurgical HRT, the acceptability of BSO as a risk reduc...

Children of BRCA mutation carriers learn of their parents genetic test results many years before preventive interventions are indicated. Further research is needed to examine how young individuals understand this information and its psychosocial impact and influence on subsequent lifestyle and health behaviors.