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.
US-based researchers assessed the performance of (non-contrast) annual whole-body MRI as part of a multimodality screening for individuals with Li-Fraumeni syndrome for early cancer detection. These researchers concluded that, in conjunction with other methods endorsed by LFS guidelines, annual wbMRI substantially contributes to the detection of localized, asymptomatic cancers across the spectrum of LFS. The
New prospective data from a German study indicate that annual whole-body MRI for LFS surveillance could be shortened and may not require contrast agent while still detecting new cancers. Larger studies are needed before this becomes standard practice to ensure reliable detection across the entire, diverse LFS tumor spectrum. The goal is a patient-friendly,
Cancer Resilient Elephants The tumor suppressor Tp53 is the most mutated gene in cancers. Germ-line variations in Tp53 lead to cancer predisposition, as noted in the Li-Fraumeni syndrome (LFS) carriers. Currently, no options are available to delay or prevent cancer development in this population. Conversely, animals such as elephants, are relatively resistant to
The 2025 updated screening recommendations for individuals with Li-Fraumeni syndrome (LFS) are now available from the American Association for Cancer Research (AACR), as published in Clinical Cancer Research on May 15, 2025. These evidence-based updates offer important changes to surveillance protocols aimed at improving early cancer detection and care for individuals living with LFS. The
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
Just published by American Association for Cancer Research (AACR) is the updated version of the “Toronto Protocol,” the widely recognized screening recommendations for Li-Fraumeni syndrome patients, worldwide. Lead by Dr. David Malkin (LFSA Medical & Scientific Board Member and Co-chair of LFSA – Canada), this new perspective provides an up-to-date clinical overview of LFS
The two MHH researchers Lucas John Müntnich and Professor Christian Kratz refer to the cluster analysis of the study, according to which cancer-free survival depends on the classification of the underlying variant. Copyright: Karin Kaiser/MHH. (With permission.) A new form of cluster analysis enables the development of personalized cancer screening tests. As presented
UK researchers conducted a retrospective case-series study of four children diagnosed with solid cancers at age 16 or younger, aiming to assess the time to and survival following a second cancer diagnosis. In those who received radiotherapy for the initial cancer, the median time to a second primary cancer diagnosis was 13.3 years, with a
High resolution clustering of TP53 variants into functional classes correlates with cancer risk among germline variant carriers and identifies different phenotypes of the Li-Fraumeni Syndrome. Emilie Montellier, PhD (1), Nathanaël Lemonnier, PhD (1), Judith Penkert, MD (2), Claire Freycon, MD (1,3,4), Sandrine Blanchet, MSc (1), Amina Amadou, PhD (1,5), Florent Chuffart, PhD (1), Nicholas Fischer,
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