Newborn Screening for Li-Fraumeni Syndrome: Patient Perspectives

Abstract excerpt

<title>Abstract</title> <p>Background Li-Fraumeni syndrome (LFS) is an inherited cancer predisposition syndrome with an estimated prevalence of 1 in 3,000–5,000 individuals. LFS poses a significant cancer risk throughout the lifespan, with notable cancer susceptibility in childhood. Despite being predominantly inherited, up to 20% of cases arise <italic>de novo</italic>. Surveillance protocols facilitate the red...

Topics

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• Cancer-related Molecular Pathways
• Child
• Early Detection of Cancer
• Genetic Predisposition to Disease
• Genetic Testing
• Germ-Line Mutation
• Li-Fraumeni Syndrome
• Tumor Suppressor Protein p53

Identifiers and source

Literature Corpus work

3d1bd7f9-eb01-5011-ba62-cb5da247bb2b

DOI

10.21203/rs.3.rs-4351728/v1