Abstract 2036: The Bull's Eye: A research tool to characterize family, friends and social networks within a Li-Fraumeni Syndrome family

Abstract

Abstract Background:Li-Fraumeni Syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome associated with early age of onset and high lifetime risk of multiple malignancies. Pathogenic germline variants (PV) in TP53 cause ~70% of LFS. Our prior work using the Colored Eco-Genetic Relationship Map found that non-bloodline relationships (i.e., spouses or friends) provide significant support to individuals with LFS. The Bull's Eye (BE) is a simplified tool to capture the types and degree of support obtained from family members (FMs) and social networks. We report on pilot BE data from a large family with LFS. Methods: Guided by investigators, patients in NCI's longitudinal LFS cohort (ClinicalTrials.gov Identifier: NCT01443468) independently completed a BE during annual screening visits. This tool is comprised of four concentric circles, with the innermost signifying the patient and outer circles indicating increasingly limited support. Individuals identified on the BE were coded 0-8 to indicate proximity to the patient. Independent sample T-tests and a linear regression were used in analyses. Results: Fifteen FMs from 1 family participated, including 10 TP53 PV carriers, 4 spouses of carriers, and 1 untested FM. The 7 males and 8 females ranged from 14-56 years of age (Median = 29). No significant association was detected between gender and number of FMs reported. Women cited significantly more non-family members (NFMs) than did men (Mean [M] = 7.6 ± 4.1 and M = 3.1 ± 2.4, respectively; p = 0.02.). There was no significant association between participant PV status and number of FMs reported. Spouses cited significantly more NFMs than did TP53 PV carriers (M = 8.8 ± 2.5 and M = 4.0 ± 3.9, respectively; p = 0.04). We assessed the relationship between gender, PV status and number of NFMs identified. The overall model explained a significant amount of variance in number of NFMs reported (r2 = 0.46; p = 0.02), driven by female gender and spouses of PV carriers. Gender independently contributed significantly to the model (B = 3.88, p = 0.04) while PV status did not (B = 0.03, p = 0.13). Conclusion: The BE is a practical and efficient tool to evaluate support in this LFS kindred. Women in this family had larger social networks than men, particularly through NFM relationships. In contrast, men primarily received support from close kin (i.e., siblings). Notably, spouses reported larger NFM networks than did TP53 PV carriers, seeking emotional support from friends, coworkers, and church groups. It is possible that PV carriers may be more comfortable sharing their LFS-related life experiences with FMs. Additional research with larger samples will clarify relative impacts of gender and PV status. Future analyses will evaluate other NCI LFS families to determine if: 1) patterns hold, 2) differences exist based on cancer history, 3) generational differences exist, and 4) bi-directional responses differ between FMs. Citation Format: Radhika Srivastava, Renee Bremer, Jessica Bayer, Allison Werner-Lin, Megan Frone, Sharon Savage, Payal P. Khincha, Jennifer Loud. The Bull's Eye: A research tool to characterize family, friends and social networks within a Li-Fraumeni Syndrome family [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 2036.