These data suggest clinical utility of baseline WBMRI in TP53 germline mutation carriers and may form an integral part of baseline clinical risk management in this high-risk population.

Background Germline TP53 mutations predispose to early onset breast cancer (BC) in women and are associated with the Li Fraumeni syndrome. Published data on the pathological characteristics of breast cancer among women with TP53 mutations is limited. Methods We retrospectively reviewed clinical records of women who had genetic testing for suspected germline TP53 mutations and who were diagnosed with BC between 2000 to 2011. The pathological characteristics of the breast tumors from women testing positive (cases) for a mutation were compared to those testing negative (controls). Results Patients who tested positive for germline TP53 mutations (N=30) were compared to (N=79) controls. Human epidermal growth factor receptor 2 (HER2) amplification and/or overexpression was found in 67% of the tumors from the cases, compared to 25% for the controls (p=0.0001). Among patients with a mutation, 70% had estrogen receptor and/or progesterone receptor positive tumors, compared to 68% in the control group (p= 0.87). After adjusting for age at BC diagnosis, having a HER2 positive tumor increased the odds of testing positive for a germline TP53 mutation (OR, 6.9, 95% CI, 2.6 to 18.2). For each yearly increments in age at BC diagnosis, there was decreased likelihood of having a TP53 mutation by 5% (OR=0.95, CI 0.91 to 0.99). Conclusion This study suggests an association between germline TP53 mutations and early onset HER2 positive breast cancer. If confirmed in a larger cohort, these results could guide genetic testing strategies, lead to chemoprevention trials incorporating HER2 targeted therapies, and elucidate some of the molecular pathways involved in breast cancer.

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Purpose In the past five years new screening protocols have been developed that provide improved cancer screening options for individuals with Li-Fraumeni Syndrome. Very little has been published on the psychosocial impact of these screening protocols. The goals of this study were to determine how participation in screening impacts individuals psychosocially, to examine the benefits and drawbacks of screening, and to evaluate possible barriers to continued screening. Methods We performed a qualitative study consisting of semi-structured phone interviews conducted from December 2015-February 2016 with 20 individuals attending the LFS screening program at M.D. Anderson Cancer Center. Results Data analysis showed that benefits of screening include early detection, peace of mind, centralized screening, knowledge providing power, and screening making LFS seem more livable. Perceived drawbacks included logistical issues, difficulty navigating the system, screening being draining, and significant negative emotional reactions such as anxiety, fear, and skepticism. Regardless of the emotions that were present, 100% of participants plan on continuing screening in the program. Conclusion Our data indicates that the perceived benefits of screening outweigh the drawbacks of screening. Individuals in this screening program appear to have improved psychosocial well-being because of their access to the screening program.