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Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.


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