Overview of Inherited Cancer
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1 Sidorela Gllava
2 Overview of Inherited Cancer 52% 32% 16% BRCA 1 BRCA 2 Other Genes Breast Cancer: p53, PTEN, etc Ovarian Cancer:MSH2, MSH6, MLH1, etc
3 Breast and Ovarian Cancer Risk: BRCA Mutation Carriers vs. General Population BRCA 1/2 Mutation 70% General Population 64% % 44% % 25% % First Breast Cancer by age 40 2% First Breast Cancer by age 50 7% First Breast Cancer by age 70 Second Breast Cancer (in same or opposite breast) by age 70 2% Ovarian cancer by age 70
4 Contralateral Breast Cancer Risks in BRCA Mutation Carriers Cumulative Risk of Contralateral Breast Cancer % after 25 years Graeser et al. (2009. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J. Clin Oncol. 27(35):
5 BRCA Genetic Test Results OR OR
6 % Risk Reduction Cancer Risk Reduction Measures 0% Tamoxifen Oophorectomy Oral Contraceptives 20% 40% 60% 53% 50% 50% 80% 100% 90% 80% Breast Cancer Ovarian Cancer
7 Objective To evaluate factors associated with prophylactic mastectomy uptake including: BRCA mutation status Clinical variables (personal and family history of cancer) Demographic variables (education level, household income, etc.)
8 Methods Study Population Females (Moffitt and Non-Moffitt patients) enrolled in the Inherited Cancer Registry (ICARE) Initiative who completed a baseline health questionnaire between June 2010 and March ICARE is a research registry that enrolls individuals at risk for developing inherited forms of cancer. Analysis Questionnaire data was available on 388 participants and was sub-grouped based on prior diagnosis of breast cancer and also by prophylactic mastectomy. Prophylactic mastectomy was defined as those who had a bilateral mastectomy and either: 1) no prior breast cancer diagnosis OR 2) unilateral breast cancer diagnosis. Descriptive statistics (frequencies, chi-squared values) were calculated to determine the clinical and demographic variables associated with the uptake of prophylactic mastectomy.
9 Bilateral Status among ICARE participants Bilateral Age at Diagnosis Yes (n=184) No (n=204) P- Value (75.2%) 36 (64.3%) > (24.8%) 20 (35.7%) Positive Personal History of Breast Cancer Unilateral Breast Cancer 78 (60.0%) 52 (40.0%) Bilateral Breast Cancer 27 (87.1%) 4 (12.9%) No Personal History of Breast Cancer 79 (34.8%) 148 (65.2%) Prophylactic n = 157
10 Participants Uptake of Bilateral among BRCA Carriers vs. Non-Carriers Carriers Non Carriers (90%) (39%) 6 (10%) (60%) 21 (100%) Bilateral 4 (40%) No Bilateral 66 (67%) Bilateral 19 (61%) 33 (33%) No Bilateral 73 (43%) Bilateral 96 (57%) No Bilateral Bilateral Breast Cancer Unilateral Breast Cancer No Personal History of Breast Cancer
11 Percentage Uptake of Prophylactic vs. BRCA Mutation Status 100% 90% 80% 88% Prophylactic Yes No 70% 60% 50% 40% 30% 20% 10% 0% 65% 17% 10% 8% 5% 3% 4% BRCA Positive BRCA Negative VUS No Genetic Testing
12 Evaluation of Clinical Variables with Prophylactic Status Family History of Cancer Prophylactic Yes 157 (40.5%) No 231 (59.5%) P-Value Yes 145 (92.1%) 191 (82.7%) No 12 (7.6%) 40 (17.3%) Type (n=124) 21% Total 79% Subcutaneous
13 Evaluation of Demographic Variables with Prophylactic Status Prophylactic Yes (n=157) No (n=231) P-Value Age ± ± Marital Status Education Married 112 (71.8%) 154 (66.7%) Other 44 (28.2%) 77 (33.3%) High School Graduate or Less 10 (6.4%) 27 (11.%) College/Graduate School 147 (93.6%) 204 (88.3%) Household Income Children $49, (20.0%) 60 (26.3%) $50,000 - $89, (23.9%) 58 (25.4%) $90,000 or more 75 (48.4%) 88 (38.6%) Prefer not to answer 12 (7.7%) 22 (9.60%) Yes 134 (85.4%) 180 (77.9%) No 23 (14.7%) 51 (22.0%)
14 Conclusions Uptake of bilateral mastectomy is higher in Those with bilateral breast cancer Those diagnosed with breast cancer 50 Uptake of prophylactic mastectomy is higher in BRCA carriers versus non-carriers and those with VUS results The frequency of prophylactic mastectomy is higher in those with a family history of cancer.
15 Future Directions Analyze factors that influence the uptake of prophylactic oophorectomy and other risk management options, including cancer screening. Measure the level of knowledge about hereditary breast and ovarian cancer (HBOC) and its impact on the uptake of prophylactic procedures.
16 Acknowledgments Moffitt-Based Research Team Co-Authors Tuya Pal, MD, FABMG Susan Vadaparampil, PhD, MPH Courtney Lewis, BS Devon Bonner, BA Andrea Doty, MPH Funding Source Bankhead- Coley (Grant# IBG-09)
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