D. A. Henry1, D. Almanza1, C. Lee1, W. Sun1, T. Pal2, C. Laronga1 1Moffitt Cancer Center And Research Institute,Breast Surgical Oncology,Tampa, FL, USA 2Vanderbilt-Ingrahm Cancer Center,Nashville, TN, USA
Introduction: Given the growing list of genetic mutations associated with increased risk for breast cancer, the purpose of this study is to identify Florida enrollees in our Inherited Cancer Registry (ICARE) to better quantify the population for subsequent studies.
Methods: This is a single-institution, IRB-approved international database of subjects recruited from a combination of sources (institutional genetics clinic, external referrals, and social/media outlets) for an inherited cancer syndrome registry. Subjects enrolled from Nov 2000 to Jan 2017 were offered voluntary questionnaires as part of the study. Patients with a Florida zip code and a positive test for one of 11 genetic mutations associated with increased risk for breast cancer (per 2017 NCCN guidelines) were included for analysis. Demographics and questionnaire data were reviewed.
Results: Florida zip codes were identified for 1,247 (55%) of subjects at enrollment. 526/1247 were confirmed carriers of a deleterious mutation, encompassing 8/11 targeted NCCN genes form our study cohort. Median age at enrollment was 48.5 years (range 20-83); 91% were female, 85% self-identified as non-Hispanic Whites. Most patients were BRCA1+ (42%) or BRCA2+ (42%), followed by ATM+ (5%); 374 (71%) of patients had a history of cancer (64% breast; 7% ovarian, 3% both). Questionnaire response rate was 69%. Based on self-reported data, 351/361 (97%) of patients had a high school diploma of which 61% had a college degree or higher; 169/313 (54%) of carriers were the first in their family to have testing. 293/526 (56%) of the cohort, based on zip code, are predicted to fall below the national median household income (MHI) of $54,889; however, where available, questionnaire data placed only 101/314 (32%) below the national MHI. 261 (83%) had private health insurance at the time of genetic testing. 148 (48%) had complete insurance coverage for testing, 98 (32%) received subsidized testing or paid a copay, and 22(7%) paid out of pocket. 161 were treated with surgery for breast cancer; 59 (37%) bilateral mastectomies, 37 (23%) unilateral mastectomies, and 65 (40%) breast-conservation. 72/161 (45%) had genetic testing for surgical decision making, of which 43 (60%) opted for bilateral mastectomy. 89/161 (55%) had genetic testing after surgery, of which 16 (18%) pursued delayed bilateral mastectomy.
Conclusion: Within this educated, insured, and higher income Florida cohort, non-Hispanic White BRCA1/BRCA2 female carriers were the most frequent participants. This is a highly selected group compared to the population of Florida. Genetic test results seemed to influence prophylactic mastectomy choice, as a majority of post-test result cancer patients (59%) elected bilateral mastectomy. This database encompasses a large hereditary cancer syndrome cohort, but is too selected for regional population-based evaluation.