Kaplan-Meer Analyses of Time to First Malignancy in Patients Struled According to the Results of a Yeast Assay that Measures Transactivation of target genes. Credit: JNCI Cancer Spectrum (2025). Doi: 10.1093/JNCICS/PKAF008
People with the rare li-frameni syndrome (LFS) has a high risk of developing cancer. Almost all the time affected will develop cancer once, and in many cases several times, during their lifetime. LFS is a herreditary disease caused by disease-Relevant variants in the TP53 Gene.
Researchers at hannover medical school “Our results will probally have a direct impact on clinical care. Dr. Christian Kratz, Director of the Department of Pediatric Hematology and Oncology at the MHH and Initiator of the study.
The paper is Published in the journey JNCI Cancer Spectrum,
The individual gene variants were divided into different clusters. This analysis divides TP53 Variants Into Different Groups with Varying Degrees of Loss of Function of the Al a Al a Al ared Protein. Among other things, it became clear that carries of Cluster C Varionats Developed Cancer Significantly Later Than Carriers of Variants from Other Groups.
People with Lfs Typically Develop Brain Tumors, Adrenocortical Carcinoma, Soft Tissue Sarcoma, Osteosaracoma and Breast Cancer. That affected also have an increase Risk of Hematological, Gastrointestinal, Skin, Lung, Prostate, Pancreatic and Other Cancers. In LFS, Cancer often Occurs in Childhood or Adolescence. Comprehensive Early Cancer Detection Measures are recommended for that affected.
The biologically plausible results of this study can serve as a base for future recommendations on Cancer Prevention and Monitoring. “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 safe These specific variants for adrenocortical carcinoma. Department of Pediatric Hematology and Oncology and First Author of the Study.
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
Provided by Medizinische HoChSchule Hannover
Citation: New Study Refines Cancer Risk Assessment for Li-Frameni Syndrome (2025, March 13) Retrieved 14 March 2025 from
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