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Germline TP53 pathogenic variants and breast cancer: A narrative review.

Cancer treatment reviews - 1 Mar 2023

Blondeaux Eva, Arecco Luca, Punie Kevin, Graffeo Rossella, Toss Angela, De Angelis Carmine, Trevisan Lucia, Buzzatti Giulia, Linn Sabine C, Dubsky Peter, Cruellas Mara, Partridge Ann H, Balmaña Judith, Paluch-Shimon Shani, Lambertini Matteo

Abstract excerpt

Approximately 10% of breast cancers are associated with the inheritance of a pathogenic variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer predisposing genes, including TP53, are responsible for the increased breast cancer risk. Tumor protein-53 (TP53) germline PVs are associated with Li-Fraumeni syndrome, a rare autosomal dominant inherited cancer predisposition syndrome...

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PMID: 36739824
DOI: 10.1016/j.ctrv.2023.102522

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