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Papers & Research Literature

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

Optimizing shared decision-making for risk-reducing mastectomy in women with Li–Fraumeni syndrome using patient-reported outcome measures

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

Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

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

Li-Fraumeni syndrome: predicting cancer risk more precisely

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

Radiotherapy results in decreased time to second cancer in children with Li Fraumeni syndrome

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

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome

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,

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome (“Toronto Protocol”)

In October 2016, the American Association for Cancer Research organized a meeting with international experts on Li-Fraumeni Syndrome (LFS) to review the current understanding of the condition and propose consensus guidelines for surveillance. This summary provides an overview of the clinical and genetic aspects of this aggressive cancer predisposition syndrome. The expert panel concluded that

By |2025-07-01T15:08:20-04:00January 31st, 2025|Papers & Research Literature, Reference|0 Comments

2011: Monograph on Li-Fraumeni Syndrome by David Malkin

Li-Fraumeni syndrome (LFS) is a genetic disorder linked to mutations in the p53 tumor suppressor gene, leading to a wide range of cancers. While p53 mutations help explain some cancer risks, they don't fully account for the complex patterns seen in LFS. Recent research has found other genetic factors, like polymorphisms and telomere changes, that

By |2024-08-13T17:05:42-04:00August 13th, 2024|Papers & Research Literature|0 Comments

1988: A cancer family syndrome in twenty-four kindreds by Fred Li

Researchers analyzed families with a pattern of sarcomas, breast cancer, and other cancers occurring in young patients. They found that cancer developed in an autosomal dominant pattern, with 79% of affected individuals diagnosed before age 45. These families also had higher rates of brain tumors, leukemia, and adrenocortical carcinoma. The variety of cancers suggests unique

By |2024-08-13T16:09:11-04:00August 13th, 2024|Papers & Research Literature|0 Comments
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