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

[摘要] BackgroundWe 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 deleteriousBRCA1orBRCA2mutation in the Canadian province of British Columbia. MethodsThis retrospective population-based study used data available in British Columbia for all women who, between 1996 and 2014, were tested and found to have aBRCAmutation. Rates of risk-reducing interventions stratified according to the type ofBRCAmutation and prior history of breast or gynecologic cancer (ovary, fallopian tube, peritoneal) are presented. Cancers diagnosed in women with aBRCAmutation after disclosure of their mutation status are also presented. ResultsThe final study cohort consisted of 885 patients with a deleteriousBRCA1( n= 474) orBRCA2( n= 411) mutation. Of the women with no prior breast cancer, 30.8% carrying aBRCA1mutation and 28.3% carrying aBRCA2mutation underwent bilateral mastectomy. Of women with no prior gynecologic cancer, 64.7% carrying aBRCA1mutation and 62.2% carrying aBRCA2mutation 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 ofBRCAmutation status. ConclusionsOur results suggest reasonable uptake of risk-reducing interventions in high-risk women. To minimize the occurrence of breast and ovarian cancer in women with aBRCA1orBRCA2mutation, more attention could be paid to ensuring that affected women receive proper counselling and follow-up.

[学科分类] 肿瘤学

[关键词] BRCA mutation;hereditary breast;ovarian cancer;prevention;risk reduction