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Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report.

Juan Pablo Arango-IbañezLuis Gabriel Parra-LaraÁngela R ZambranoLisa Ximena Rodríguez-Rojas
Published in: Hereditary cancer in clinical practice (2024)
Advanced paternal age is a risk factor to consider when hereditary cancer syndrome is suspected. Early detection of hereditary cancer syndromes and their multi-disciplinary surveillance and treatment is important to improve clinical outcomes for these patients. Further investigation of the relationship between the pathogenic variant of TP53 and its phenotype may guide the stratification of surveillance and treatment.
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