Abstract Background Li-Fraumeni syndrome (LFS) has traditionally been identified by single-
gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene …

Previous analysis of next‐generation sequencing (NGS) hereditary pan‐cancer panel
testing demonstrated that approximately 40% of TP53 pathogenic and likely pathogenic …

Summary Background Individuals with Li-Fraumeni syndrome have a high lifetime risk of
developing cancer. We assessed the feasibility and potential clinical effect of a …

Background Carriers of a germline TP53 pathogenic variant have a substantial lifetime risk
of developing cancer. In 2011, we did a prospective observational study of members of …

Importance Li-Fraumeni syndrome is a cancer predisposition syndrome that is associated
with a high, lifelong risk of a broad spectrum of cancers that is caused by …

Li–Fraumeni syndrome (LFS) is an autosomal‐dominant cancer predisposition disorder
associated with pathogenic germline variants in TP53, with a high penetrance over an …

Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 (TP53) as a
germline mutation continues to evolve. The clinical impact of a germline TP53 mutation is …

Germline pathogenic variants in TP53 gene have different consequences according to cell,
tissue, context and age. The occurrence of frequent variants in patients with no criteria …

Reports of variable cancer penetrance in Li–Fraumeni syndrome (LFS) have raised
questions regarding the prevalence of pathogenic germline TP53 variants. We previously …

Purpose Panel testing has led to the identification of TP53 pathogenic/likely pathogenic
(P/LP) variant carriers (TP53+) who exhibit a broad range of phenotypes. We sought to …