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.

Objective To examine the experience, comprehension and perceptions of learning of a parent’s BRCA mutation during adolescence and early adulthood, and explore the impact on offspring’s physical and psychosocial well-being. Methods Semi-structured interviews were completed with 22 adult offspring who learned of their parent’s BRCA mutation prior to age 25 years. Data were summarized using qualitative methods and response proportions. Results Offspring reports of the content shared varied; discussion of cancer risks and offspring genetic testing were described more frequently than risk modification strategies. The majority of offspring reported a good understanding of the information shared and no negative aspects for learning this information. Some offspring reported changing their health behaviors after learning of the familial mutation; many tobacco users stopped smoking. Offspring interest in genetic counseling surrounding parent disclosure and genetic testing during adulthood were high. Conclusions Some offspring understand and respond adaptively to early communication of a genetic risk for cancer, and disclosure may foster improved health behaviors during adolescence and young adulthood. Further research is necessary to evaluate how offspring conceptualize and utilize genetic risk and to identify the biopsychosocial factors predictive of adaptive/maladaptive responses to early disclosure of hereditary risk for adult cancer.

Background BRCA1/2 testing is not recommended for children, as risk reduction measures and screening are not generally recommended before 25 years old (YO). Little is known about the prevalence and predictors of parent communication to offspring and how offspring respond to this communication. Methods Semi-structured interviews were conducted with parents who had BRCA1/2 testing and at least one child <25 YO. Logistic regressions were utilized to evaluate associations with communication. Framework analysis was utilized to analyze open-ended responses. Results 253 parents completed interviews (61% response rate), reporting on 505 offspring. 29% of parents were BRCA1/2 mutation carriers. 334 (66%) offspring learned of their parent’s test result. Older offspring age (p<=0.01), offspring gender (female, p=0.05), parents’ negative test result (p=0.03) and parents’ education (high-school only, p=0.02) were associated with communication to offspring. The most frequently reported initial offspring responses were neutral (41%) or relief (28%). 13% of offspring were reported to experience concern or distress (11%) in response to parental communication of their test results. Distress was more frequently perceived among offspring learning of their parent’s BRCA1/2 positive or variant of uncertain significance result. Conclusion Many parents communicate their BRCA1/2 test results to young offspring. Parents’ perceptions of offspring responses appear to vary by offspring age and parent test result. A better understanding of how young offspring respond to information about hereditary risk for adult cancer could provide opportunities to optimize adaptive psychosocial responses to risk information and performance of health behaviors, in adolescence and throughout an at-risk lifespan.