Selected medical interventions in women with a deleterious BRCA mutation: a population-based study in British Columbia.

Background: We examined the uptake of risk-reducing interventions, including bilateral mastectomy, risk-reducing salpingo-oophorectomy, oral contraceptive pills, tamoxifen, and raloxifene, for the entire population of women with a deleterious BRCA1 or BRCA2 mutation in the Canadian province of British Columbia. Methods: This retrospective population-based study used data available in British Columbia for all women who, between 1996 and 2014, were tested and found to have a BRCA mutation. Rates of risk-reducing interventions stratified according to the type of BRCA mutation and prior history of breast or gynecologic cancer (ovary, fallopian tube, peritoneal) are presented. Cancers diagnosed in women with a BRCA mutation after disclosure of their mutation status are also presented. Results: The final study cohort consisted of 885 patients with a deleterious BRCA1 (n = 474) or BRCA2 (n = 411) mutation. Of the women with no prior breast cancer, 30.8% carrying a BRCA1 mutation and 28.3% carrying a BRCA2 mutation underwent bilateral mastectomy. Of women with no prior gynecologic cancer, 64.7% carrying a BRCA1 mutation and 62.2% carrying a BRCA2 mutation underwent risk-reducing bilateral salpingo-oophorectomy. Rates of chemoprevention with oral contraceptive pills and tamoxifen or raloxifene were low in all groups. In this cohort, 23 gynecologic and 70 breast cancers were diagnosed after disclosure of BRCA mutation status. Conclusions: Our results suggest reasonable uptake of risk-reducing interventions in high-risk women. To minimize the occurrence of breast and ovarian cancer in women with a BRCA1 or BRCA2 mutation, more attention could be paid to ensuring that affected women receive proper counselling and follow-up.

Falling through the cracks. Women's experiences of ineligibility for genetic testing for risk of breast cancer.

OBJECTIVE: To describe experiences of women seeking information about their risk of hereditary breast cancer who fail to meet strict eligibility criteria for genetic counseling and testing. DESIGN: Qualitative descriptive study. SETTING: Hereditary cancer program in western Canada. PARTICIPANTS: Women who had received notification of their ineligibility for referral for hereditary breast cancer risk assessment (n = 20) and some of their referring physicians (n = 10). Of 28 attempted contacts, five women had moved, one declined the invitation to participate, and two could not be interviewed because of scheduling conflicts. Ten of 20 physicians declined the invitation to participate. METHOD: In-depth, open-ended telephone interviews were conducted. Transcribed interviews were systematically analyzed to identify salient themes. MAIN FINDINGS: Three themes emerged. The first theme, "It's always on your mind," points to the profound concern about breast cancer that underlies women's experiences in seeking genetic testing. The second theme, "A test is a test," reflects women's beliefs that the test was relatively simple and similar to other medical tests in that it would provide a definitive answer. The third theme, "Falling through the cracks," captures the experience of ineligibility. Women reacted with a range of emotional responses and were left frustrated in their search for more specific information about their personal risk for breast cancer. Although women were encouraged to contact their physicians, few did. CONCLUSION: These findings point to the psychological consequences in women who seek genetic testing for risk of breast cancer when they are told they are ineligible and they are not given adequate information and support.