Researchers continue to study the psycho-social impact of Li-Fraumeni syndrome on young adults and their concerns about LFS, determining that effectively managing the challenges requires interdisciplinary care teams, including mental health providers, genetic counselors, and physicians. Read more here. (2025)
Li-Fraumeni syndrome (LFS) researchers in Brazil studied factors in determining quality of life issues for women living with LFS who consider risk-reducing mastectomies – one of the few available options to reduce cancer risks in women beyond surveillance. When reviewing this study, keep in mind that the majority of participants in the study carry the
Culture Matters: Individuals affected by LFS reported a wide range of experiences with this rare and poorly understood condition. Limited availability of information often contributed to delays and denial in diagnosis. Their accounts highlight critical yet underexplored issues—such as guilt and helplessness—that warrant urgent attention. Future policies should be informed by these perceived needs
Adolescents and young adults (AYAs) reported family communication difficulties related to LFS that negatively affected their emotional well-being. Stress related to LFS and major life changes both contributed to and were worsened by these family challenges. Clinicians can support AYAs with LFS by asking about family communication, responding with empathy, offering resources to help with
This study examined anxiety and depression in mothers of newborns carrying the TP53 p.R337H variant in southern Brazil. Mothers of carriers showed higher anxiety shortly after genetic testing, but anxiety decreased within four months. Depression levels did not significantly change. Ongoing psychological support may be needed for mothers with existing mental health concerns. (2022)
Data analysis indicated that the perceived benefits of screening included early detection, increased peace of mind, centralized care, empowerment through knowledge, and a sense that screening made living with LFS more manageable. Reported drawbacks included logistical challenges, difficulty navigating the healthcare system, the physically and emotionally taxing nature of screening, and strong negative emotional responses
Despite limited empirical evidence on the benefits and risks of TP53 testing in childhood, most parents in this study readily chose testing and identified multiple benefits. The authors conclude that, within the context of a clinical Li-Fraumeni syndrome diagnosis, parents should continue to be offered TP53 testing for their children, receive clear counseling on potential
P.O. Box 6458
Holliston, MA 01746, USA
Phone: 1-833-4MYLFSA (1-833-469-5372)
Email: info@lfsassociation.org
© Copyright 2026 | Li-Fraumeni Syndrome Association | All Rights Reserved | Terms & Conditions | Privacy Policy
