Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.

doi:10.1136/jmg-2024-110449

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Article

Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.

Journal of medical genetics - 26 Feb 2025

Louis Jeanne, Rolain Marion, Levacher Corentin, Baudry Karen, Pujol Pascal, Ruminy Philippe, Baert Desurmont Stéphanie, Bou Jacqueline, Bouvignies Emilie, Coutant Sophie, Kasper Edwige, Lienard Gwendoline, Vasseur Stéphanie, Vezain Myriam, Houdayer Claude, Charbonnier Françoise, Bougeard Gaëlle

Abstract excerpt

BACKGROUND: Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline TP53 variants for optimal clinical management of patients and families. Several unclassified variants, particularly those potentially affecting splicing, require specialised testing. One such example is the NM_000546.6:c.1101-2A>C...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 39788694
DOI: 10.1136/jmg-2024-110449

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TP53

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