Article

Genotypic and Phenotypic Characteristics of Germline TP53 Variant Carriers: Experience from Two Cancer Genetic Counseling Units

2025-10-22

Abstract excerpt

<title>Abstract</title> Germline TP53 pathogenic or likely pathogenic variants underlie Li–Fraumeni syndrome (LFS), but with broader use of multigene panel (MGP) testing carriers are increasingly identified outside classic criteria. We retrospectively studied 36 carriers from 18 families evaluated at two Spanish hereditary cancer units (2005–2023). Clinical data were obtained from medical records, and variants...

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Literature Corpus work: f36ae2a2-5f59-576e-892c-da109c91f6c9
DOI: 10.21203/rs.3.rs-7781365/v1

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