Cancer BiologybioRxivPreprint
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Ultra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome
Hunter Colegrove, Marianne E. Dubard-Gault, Henry Marshall…·Rosa Ana Risques
Duplex sequencing of a Li-Fraumeni family links germline TP53 p.R181H to higher neutral-region mutagenesis and weaker blood TP53 selection, plus recurrent p.R248Q/W hits across proband tissues.
DOI 10.64898/2026.01.12.699071