Prophylactic surgical uptake in a cohort of BRCA carriers: an Irish perspective.

Abstract

#3095 Introduction: Women with BRCA 1/2 mutations have a lifetime risk of approximately 45-87%1 for developing breast cancer and a 20-60% risk for ovarian cancer. The managment of these patients including prophylactic surgery is contorversial and presents difficult choices for patients. Uptake of prophylactic surgery in BRCA carriers in an Irish setting has not previously been investigated.
 Methods: St. James hospital is a tertiary referral hospital for BRCA counselling and testing. All information was gathered and analysed from the Cancer genetics department database in our institution which provides a counselling service for a number of hereditary diseases.
 Results: Deleterious BRCA 1/2 mutations have been identified in 57 families since testing began in 1992. There are a total of 109 women in this cohort.
 54% of these women were diagnosed with primary breast cancer. 23 (47.9%) women were symptomatic on presentation. Only 3 (6.3%) were detected during screening. Inital surgery and prophylactic surgery uptake in this group is displayed in table 1.
 31% (n=34) of our BRCA carrier cohort remain unaffected. Uptake of surgical prohylaxis is outlined in table 2. 17 women in this group opted for no form of prophylaxis. 88% of the women will require regular screening for breast cancer.
 Age at bilateral prophylactic masectomy was 30.5 years. Of the 39 women in both groups who elected for bilateral salpingo oophorectomy, only 28% (11) women were under the age of 40 years.
 
 CPM Contralateral Prophylactic Mastectomy
 TAH/BSO Total Abd Hysterectomy/Bilat Salpingo oopherectomy
 
 TAH/BSO Total Abd Hysterectomy/Bilat Salpingo oopherectomy
 BPM Bilateral Prophylactic Mastectomy
 Discussion: Prophylactic mastectomy offers a 95% risk reduction for breast cancer of 95%, despite this, a survival benefit has not been proven. Prophylactic oophorectomy before the age of 40 years has been associated with a reduction in breast cancer of 50% and up to 80% reduction in ovarian/peritoneal malignancy.There is also data to support that oophorectomy provides a survival benefit in BRCA carriers. The rates of uptake of prophylactic surgery in both the affected and unaffected groups in our cohort are lower than that of international standards2. The reasons for this are currently under investigation.
 References:
 1. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1/2 genes in breast cancer families. Am J Hum Genet 1998;62(3):676-89.
 2. Metcalfe KA, et al.International variation in rates of uptake of preventive options in BRCA1/2 mutation carriers. Int J Cancer. 2008 May 1;122(9):2017-22. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 3095.