With advances in genetic testing, researchers and providers have been facing challenges in interpreting the pathogenic variants of TP53. Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. (2019)
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
Published by AACR in 2017, this publication was written by some of the invaluable members of LFSA's Genetic Counseling Advisory Group. In this article, the authors present a genetic counseling framework for oncology professionals. They discuss key points of entry and offer recommendations on when and how to provide initial and follow-up genetic counseling
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
On November 2, 2010, the National Cancer Institute convened a workshop at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This
Monograph on Li-Fraumeni syndrome written by Dr. David Malkin and edited by Arnold Levine: In 1969, Li and Fraumeni described a notable cancer predisposition syndrome. Using a classic epidemiological approach, they conducted a retrospective review of 280 medical charts and 418 death certificates of children diagnosed with rhabdomyosarcoma in the U.S. between 1960 and 1964.
By Thierry Soussi The history of p53 and the different interpretations of its role in cells highlight how scientific paradigms can shape research fields. It also provides valuable lessons for young scientists looking for an engaging and impactful research topic. (October 8, 2010)
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