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Hannover, Germany – A groundbreaking study conducted by researchers at Hannover Medical School (MHH) has significantly refined the cancer risk assessment for individuals with Li-Fraumeni syndrome (LFS), a rare hereditary condition that dramatically increases cancer susceptibility. The findings, published in the journal JNCI Cancer Spectrum, promise to personalize clinical care and optimize early detection strategies for those affected.
LFS, caused by variants in the TP53 gene, places individuals at an exceptionally high risk of developing multiple cancers throughout their lives. The new study, involving 304 individuals with LFS, analyzed the severity of disease triggered by various TP53 gene variants, leading to a more nuanced understanding of cancer risk.
“Our results will probably have a direct impact on clinical care. We can now better assess the risk of cancer and plan to adapt early detection examinations to the individual risk,” stated Prof. Dr. Christian Kratz, Director of the Department of Pediatric Hematology and Oncology at MHH and the study’s initiator.
The researchers categorized the individual gene variants into distinct clusters, reflecting varying degrees of loss of function of the altered TP53 protein. Notably, carriers of cluster C variants were found to develop cancer significantly later than those with variants from other groups.
LFS is associated with a wide range of cancers, including brain tumors, adrenocortical carcinoma, soft tissue sarcoma, osteosarcoma, and breast cancer. Affected individuals also face increased risks of hematological, gastrointestinal, skin, lung, prostate, pancreatic, and other cancers, often manifesting in childhood or adolescence.
The study’s biologically plausible results offer a foundation for tailored cancer prevention and monitoring recommendations. “For example, whole-body magnetic resonance imaging may not be necessary for carriers of disease-relevant group C variants until the age of 18. It may be sufficient to screen affected children with these specific variants for adrenocortical carcinoma. Later in life, however, a full surveillance program is required,” explained Lucas John Müntnich, assistant physician at the Department of Pediatric Hematology and Oncology and the study’s first author.
This refined risk stratification allows for a more personalized approach to early cancer detection, potentially reducing the burden of unnecessary screening for certain individuals while ensuring timely and comprehensive surveillance for others.
The research provides a significant step forward in managing LFS, offering hope for improved outcomes and quality of life for those living with this challenging condition.
More information: Lucas John Müntnich et al, Cancer risk in carriers of TP53 germline variants grouped into different functional categories, JNCI Cancer Spectrum (2025). DOI: 10.1093/jncics/pkaf008
Disclaimer: This news article is based on information provided in the given source material. Medical research is constantly evolving, and the information presented here should not be interpreted as medical advice. Individuals with Li-Fraumeni syndrome or concerns about their cancer risk should consult with a qualified healthcare professional for personalized guidance and treatment recommendations.
