Ontology highlight
ABSTRACT: Background
Li-Fraumeni Syndrome (LFS) is a heterogenous cancer predisposition condition caused by pathogenic TP53 variants, characterised by a lifelong high risk of a broad spectrum of cancers. Certain pathogenic TP53 variants have been shown be immunogenic in a somatic context. Whether neoantigenicity contributes to LFS heterogeneity is unknown. In this study we analysed the correlations between predicted neoantigenic properties of pathogenic TP53 missense variants and LFS phenotypes.Methods
MHC-I presentation scores were generated for the set of nonameric neo-peptides surrounding each TP53 missense variant against 145 different HLA-I using NetMHCpan 4.1 and the Allele Frequency Net Database. A predicted neoantigenic score (PNS) was calculated for each variant. Association
SUBMITTER: Montellier E
PROVIDER: S-EPMC12752760 | biostudies-literature | 2025 Dec
REPOSITORIES: biostudies-literature