In May 2013, Angelina Jolie revealed to the media that she had undergone preventive double mastectomy after testing positive for a BRCA1 gene mutation. Media coverage has been extensive, but it is not clear how such a personal story affected the public and cancer genetics clinics. We conducted a retrospective review using data from the clinical database of the Familial Cancer Program at our centre. The impact of Ms. Jolie's story on genetic counseling referrals and the appropriateness of such referrals were assessed and reported. The number of women referred for genetic counseling increased by 90 % after 6 months and remained high one year after AJ's story with an increase of 88 % from baseline. The number of women who qualified for genetic testing increased by 105 % after 6 months; this increase persisted but was somewhat lower after one year with an increase of 68 % from baseline. Furthermore the number of BRCA1/2 carriers identified increased by 110 % after 6 months and by 42 % after one year.The effect of Mrs. Jolie's story persisted one year after its release; however in the latter half of the year, the hereditary cancer risk of referred women was significantly lower than initially observed. The next challenge for our health care system will not only be to meet the increased demand for cancer genetic services in our region, but also to ensure that referrals and hence use of genetic counseling resources are appropriate.
44 Background: In May 2013, AJ revealed to the media that she had undergone preventive double mastectomy. The actress had a family history of breast and ovarian cancer and tested positive for the BRCA1 gene mutation. Media coverage has been extensive, but it’s not clear what messages the public and professional medical staff took from this personal story that sometimes could be misleading. Methods: We conducted a retrospective review in our centre using data from the clinical database of the Familial Cancer Program in a tertiary care cancer centre. The impact of AJ’s story on genetic counseling referrals was assessed by comparing the number of referrals made 6 months before and after the story. In addition, the quality of referrals was reported by comparing the number of patients who qualified for genetic testing as defined by the Ontario Ministry of Health and Long Term Care and the ones who carried a BRCA1/2 mutation before and after the media release. Results: The number of women referred for genetic counseling increased by 85% after the release of AJ’s story (479 before versus 887 after). This translated to an increase of 99% in the number of women who qualified for a genetic testing (211 before versus 419 after). Among them, 120 and 254 women had a history of breast and ovarian cancer in their family, 16 and 37 women had a history of male breast cancer in their family, and 28 and 15 women were diagnosed with breast cancer at the age of 35 or less before and after AJ’s story respectively. Furthermore, the number of BRCA1/2 carriers identified increased by 107% (29 (14 BRCA1, 15 BRCA2) before and 60 (32 BRCA1, 28 BRCA2) after). Conclusions: This study clearly shows that the number of genetic referrals doubled after AJ’s story. Nevertheless, the quality of referral remained the same with nearly the same percentage of patients who qualified for genetic testing and who were identified as BRCA1/2 carriers. The challenge is to meet the increased demand for cancer genetic services including screening, counseling, testing, and preventive surgery. After AJ’s story the current model of genetic counseling may need to be revisited.
Background Women with identified BRCA1/2 mutation have a substantially increased risk of developing several types of cancer, mainly breast and ovarian, during their lifetime. Management options included close surveillance, chemoprevention and prophylactic surgeries. The aim of this study is to assess the rate of prophylactic surgeries among BRCA1/2 carriers counseled and screened at a single institution in the last 2 decades. Methods We retrospectively captured all women with a BRCA1/2 mutation that were identified in our genetic clinic between 2000 and 2015. The incidence of breast and ovarian cancer among all BRCA carriers was reported. The rates of prophylactic surgeries were calculated and analyzed in all identified carriers. Results Six hundred and eighty four women were identified to carry a deleterious BRCA mutation, among them 364 BRCA1 (53%) and 320 BRCA2 (47%). Three hundred and twenty seven (48%) were diagnosed with breast cancer and 80 (12%) had either ovarian or fallopian tumor. Forty percent (N=271) of the women assessed were healthy carriers. Prophylactic bilateral salpingo-oophorectomies (BSO) were performed in 342 women (50%) and prophylactic mastectomies (PM) (bilateral or unilateral) in 190 (28%). Furthermore, 154 women (23%) had both BSO and PM. Of note, 79 women (12%) were less than 35 years old and 122 were less than 40 years old (18%), the majority of those were waiting to have BSO later on. If we remove the young women from the analysis, 57 and 61% of the women would have had BSO (less than 35 and 40 years excluded respectively). If we only analyze the women who had a recent follow up in our clinic (2014-2015), 422 women would be eligible. Among those, 58 and 84 were less than 35 and 40 years old (y) respectively. For this cohort, the rates of BSO would be 61% (257/422)(whole cohort), 71% (excluding women less than 35y) and 76% (excluding women less than 40y). Conclusion A promising rate of BSO was reported in our cohort of BRCA carriers as compared to the literature. This rate was even higher (from 50 to over 70%) when we only analyzed patients with recent follow up in clinic and when we excluded young women waiting to have BSO. More efforts are needed to determine why the rates of PM are lower, for example limited breast reconstruction resources, in order to reduce the incidence of subsequent invasive breast cancer in this high-risk population. Citation Format: Raphael J, Hewitt P, Graham T, Ott K, Mancuso T, Lorentz J, Emmerson M, Eisen A. Rates of prophylactic surgeries among BRCA 1 or 2 mutation carriers: A single institution experience. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P6-10-17.
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