TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

Abstract Background Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The im...

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Main Authors: Paula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, Álex Teulé, Sílvia Iglesias, Elisabet Munté, Mireia Ramos-Muntada, Carolina Gómez, Eva Tornero, Esther Darder, Eva Montes, Laura Valle, Gabriel Capellá, Marta Pineda, Joan Brunet, Lidia Feliubadaló, Jesús del Valle, Conxi Lázaro
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Genome Medicine
Subjects:
TP53
Li-Fraumeni syndrome
Heritable TP53-related cancer syndrome
Hereditary cancer
Clonal hematopoiesis
Mosaicism
Online Access:https://doi.org/10.1186/s13073-025-01429-5
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