Article
Transmission ratio distortion of germline TP53 variants in Li-Fraumeni syndrome families.
Cancer - 1 Jul 2025
Halpern Naama, Kventsel Iris, Strauss Gal, Peerless Yehudit, Boursi Ben, Yalon Michal, Goldberg Yael, Kedar Inbal, Shani Hagit, Friedman Eitan, Bernstein-Molho Rinat
Abstract excerpt
BACKGROUND: Li-Fraumeni syndrome (LFS) is a rare autosomal-dominant cancer-predisposition syndrome caused by germline pathogenic or likely pathogenic variants (P/LPVs) in the TP53 gene. Classical autosomal-dominant inheritance predicts a 50% transmission rate of TP53 P/LPV from each carrier parent to their offspring. However, clinical observations suggest higher-than-expected carrier proportions, indicating a...
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