Abstract P1-03-15: Characterization of metabolic and energetic risk factors and preventative breast surgical decisions in a cross-sectional survey cohort of hereditary cancer pathogenic variant carriers

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Abstract Background: About 10% of all breast cancers (BC) result from an inherited pathogenic variant (PV). Energetics and Lifestyle in Inherited Syndromes (ELLIES) Project is a survey-based study examining diet, exercise and metabolic risk factors in individuals with hereditary cancer pathogenic variants (HCPVs). This study describes metabolic risk factors and lifestyle habits among the first 750 participants in this cohort. We are interested in exploring how metabolic and energetic risk factors such as BMI, diet, and physical activity (PA) levels influence breast surgical decisions in both preventative and therapeutic settings. Methods: The online self-administered survey, developed in REDCap, includes questions on demographics, personal health, cancer risk factors (menopausal status, reproductive history, hormone use, breast density, family history of cancer), and metabolic risk factors (weight, height, hypertension, diabetes, and hyperlipidemia). Physical activity (PA) levels were assessed using a modified International Physical Activity Questionnaire (IPAQ), and dietary intake was evaluated with the 14-item Mediterranean Diet Adherence Screener (MEDAS). Participants aged ≥18 years with a HCPV provided electronic consent and received a $10 e-gift card upon survey completion. The survey, disseminated through social media and the advocacy group Facing Our Risk of Cancer Empowered (FORCE), also includes a Spanish version. The survey remains open with the goal of reaching 1,000 responses. Descriptive statistics were used to analyze participant demographics, cancer risk factors, and metabolic risk factors. Results: From August 2019 to December 2023, 750 participants completed the survey; mean age: 45.1 years (SD=12.6) and 96.1% were female. Self-reported race/ethnicity was 91.5% White, 3.9% Black/African American, 2.3% Asian, 2.8% Hispanic, 17.1% Ashkenazi Jewish, and 2.3% Other. Among female participants (n=721), 66.6% are previvors and 33% are survivors. In previvors, 47% have a BRCA1 or BRCA2 PV and 33.5% of previvors have had risk reducing mastectomy (RRM); mean age at RRM was 42 years (SD=11.0). Rates of RRM in previvors by PV were 42.7% BRCA1, 38.3% BRCA2, 38.9 PALB2, 28.6% ATM, 14.3% CHEK2. Family history of BC was higher in previvors with RRM (87%) compared to those without (80%). Mean BMI 26.7 (SD=6.6) for previvors with RRM and 27.3 (SD=6.7) for those without. Previvors without RRM reported moderate intensity PA (43.9%) compared to those with RRM (38.5%). Over half of previvors (62.3%) reported they were currently trying to lose weight; 183 (38%) reported ≥5 meaningful weight loss attempts in their lifetime. Perceptions of weight, diet, and PA as important cancer risk factors were similarly distributed among previvors with and without RRM. In survivors, 137 (57%) have a BRCA1 or BRCA2 PV and 91 (37.8%) of survivors have had RRM; mean age at cancer diagnosis was 43 years (SD=10.9); mean age at RRM was 45.8 years (SD=10.2). Family history of BC was reported in 64.8% of survivors with RRM compared to 61.7% without. Mean BMI was 26.4 for survivors with RRM (SD=6.0) and 25.6 (SD=5.4) for those without. Nearly half of survivors without RRM (49%) engaged in moderate intensity PA compared to survivors with RRM (38.5%). Of survivors, 55.6% reported trying to lose weight and 32% reported ≥5 meaningful weight loss attempts in their lifetime. Conclusion: Individuals with a HCPV may elect to undergo bilateral mastectomy in the preventative setting or at the time of a BC diagnosis to decrease their risk of a future BC. A better understanding of how metabolic risk factors, diet and PA impacts BC risk in PV carriers is needed. Based on this initial descriptive analysis, examination with longitudinal follow up of the cohort will further explore how these metabolic and energetic factors impact breast surgical decisions. Citation Format: Lauren Nye, Catie J. Knight, Jennifer R. Klemp, Lyndsey Kilgore. Characterization of metabolic and energetic risk factors and preventative breast surgical decisions in a cross-sectional survey cohort of hereditary cancer pathogenic variant carriers [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr P1-03-15.

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