Li-Fraumeni syndrome is an uncommon genetic condition linked with the development of multiple tumors in families, which is also characterized by an inherited germline mutation in the TP53 tumor suppressor gene. Protheragen offers a full scope of services for drug development within Li Fraumeni syndrome including but not limited to preclinical studies, development of custom animal models, therapeutic testing, and trial management support.

Overview of Li-Fraumeni Syndrome

Li-Fraumeni syndrome, or LFS for short, is linked with a predisposition to many cancers, including early-onset cancers cancer, and is estimated to occur in 1: 5,000 to 1: 20,000 people. While the most common association is with sarcomas, brain tumors along with adrenocortical carcinomas, other common cancers which have increased associations are colorectal and gastric adenocarcinomas.

Fig.1 Six p53 gene alterations in Li-Fraumeni syndrome. (Rocca, V., et al., 2022)

Pathogenesis of Li-Fraumeni Syndrome

Germline pathogenic variants of the tumor suppressor gene TP53 define Li-Fraumeni syndrome. The p53 protein is a crucial regulator of cellular homeostasis. Stressors, including DNA damage, oncogenic stimuli, nutrient shortage, and oxidative stress, trigger the post-translational modification, activation, stabilization, and accumulation of p53 within cells. The tumor-suppressing functions of p53 stem from its regulatory functions over the transcription of several genes that control critical cellular activities, including cell cycle arrest, apoptosis, senescence, DNA repair, and differentiation.

Fig.2 The effect of TP53 mutations on cellular processes. (Hosseini M. S., 2024)

Therapeutics Development for Li-Fraumeni Syndrome

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

By leveraging know-how and technology relating to Li-Fraumeni syndrome biology, we aim to facilitate and accelerate therapeutic enhancement processes with promising outcomes. We understand the complexities of Li-Fraumeni syndrome and offer a wide range of services from diagnostic and therapeutic development to sophisticated disease modeling which aids in therapy research and testing.

Therapeutic Development Services

• Small Molecule Drug
• Cell Therapy Development
• Gene Therapy Development
• Therapeutic Antibody

• Therapeutic Peptide
• Therapeutic Protein
• Microbiome Therapeutic

Animal Model Development Services

Animal models play a crucial role in understanding the pathophysiological processes of Li-Fraumeni syndrome, as well as in assessing possible treatment options. Our company provides development services for customized animal models which enhances research and intervention evaluation targeting unique genetic and phenotypic manifestations of the syndrome.

The intricacies of Li-Fraumeni syndrome are incredibly difficult and my team is focused on solving them to devise effective drug development strategies, pharmacokinetic services, and safety testing. Protheragen strives to aid your research in understanding and combating this disease with high-quality, accurate solutions that get to the pulse of the issue. Feel free to reach out to us for queries about our services.

References

• Rocca, Valentina et al. "Li-Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment." Cancers 14.15 (2022): 3664.
• Hosseini, Mohammad-Salar. "Current insights and future directions of Li-Fraumeni syndrome." Discover oncology 15.1 (2024): 561.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.