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Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns

27 Aug 2024

Abstract excerpt

Germline pathogenic TP53 variants predispose individuals to a high lifetime risk of developing multiple cancers and are the hallmark feature of Li-Fraumeni syndrome (LFS). Our group has previously shown that LFS patients harbor shorter plasma cell-free DNA fragmentation; independent of cancer status. To understand the functional underpinning of cfDNA fragmentation in LFS, we conducted a fragmentomic analysis of...

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PMID: 39191772
DOI: 10.1038/s41467-024-51529-w

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