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Papers & Research Literature

Clinical Characteristics and Cancer Histories Among Breast Cancer Patients With Li-Fraumeni Syndrome From a Single Institution

Diagnosing Li-Fraumeni syndrome soon after a patient's first cancer can reduce their overall cancer burden with an improved, personalized plan.  Faster identification enables earlier screening, proactive prevention, and better-informed treatment choices that minimize the risk of therapy-induced secondary cancers in women.  Read more on the research published in Clinical Breast Cancer (June 2026) by our

Key Points for Individuals with a Variant of Uncertain Significance (VUS) in the TP53 Gene

Genetic testing is not always a one and done process: the classification of a variant may change over time, technologies improve and better testing may become available; and guidelines and recommendations for testing and management change as we learn new information. This case in “Genetic Testing Challenges in Oncology" highlights some of these issues. The

Novel tool more accurately predicts risk of Li-Fraumeni Syndrome

Our friends at MD Anderson have published the results from their prospective study validating a new, user-friendly method in determining if genetic testing should be pursued, referred to as LFSPRO.  Developed to assist genetic counselors, LFSPRO is a statistical tool that analyzes a patient's full family history to estimate the likelihood of a TP53 mutation.

Radiotherapy in Li-Fraumeni Syndrome: From Biological Concern to Personalized Clinical Decision-Making

The use of radiation is a challenge for Li-Fraumeni syndrome patients in regard to the increased risk of developing secondary, radiation-induced cancers.  However, advances in treatment protocols with radiation are rendering it a more viable option as deemed necessary in treating certain cancers.  This paper by researchers in Morocco reviews other papers on the topic

By |2026-01-13T14:38:05-05:00January 7th, 2026|LFS News, Papers & Research Literature|0 Comments

Concerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome

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)

A prospective study of Annual Whole-Body MRI as Part of a Multimodality Screening Program for Individuals with Li-Fraumeni Syndrome

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

Optimizing whole-body MRI for early cancer detection in Li-Fraumeni syndrome

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,

By |2025-11-10T16:26:11-05:00October 29th, 2025|LFS News, Papers & Research Literature, Reference|0 Comments

p53 Prophylactic Therapy for Cancer Prevention

Researchers in Singapore, Professor Kanaga Sagapathy and Christian Krueger, have published research demonstrating that introducing a third copy of the Trp53 gene in mice delays tumor growth while remaining safe for healthy tissue.  This research is suggests that the fine tuning of p53 levels could possibly shield individuals with Li-Fraumeni syndrome from developing cancer.

By |2026-04-22T15:22:24-04:00July 16th, 2025|Papers & Research Literature|0 Comments

p53 Prophylactic Therapy for Cancer Prevention

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

New 2025 AACR Screening Guidelines for Li‑Fraumeni Syndrome Now Available

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

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