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Advanced filters: Author: Brianne Laverty Clear advanced filters

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup

Li-Fraumeni syndrome is a cancer predisposition disorder caused by TP53 variants, but the way different TP53 variants contribute remains unclear. Here, the authors analyse TP53 mutagenesis datasets and identify five TP53 variant clusters that show associations with specific cancer patterns as well as potential clinical strategies.

Nicholas W. Fischer
Noel Ong
David Malkin
ResearchOpen Access29 Sept 2025
Nature Communications

Volume: 16, P: 1-14
Peripheral blood DNA methylation predicts the early onset of primary tumor in TP53 mutation carriers

Li-Fraumeni syndrome leads to an increased predisposition to tumour development. Here, the authors develop a support vector machine model to predict early cancer risk in individuals using peripheral blood DNA methylation profiles.

Vallijah Subasri
Benjamin Brew
Anna Goldenberg
ResearchOpen Access26 Aug 2025
Nature Communications

Volume: 16, P: 1-12
Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns

Here, Wong et al investigate the cell-free DNA landscape of individuals with Li-Fraumeni syndrome (LFS), a cancer predisposition, and find altered composition compared to non-LFS individuals which can be used to detect and track cancer development.

Derek Wong
Maha Tageldein
Trevor J. Pugh
ResearchOpen Access27 Aug 2024
Nature Communications

Volume: 15, P: 1-16

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