Article
Cancer Predisposition Syndromes in Children: Who, How, and When Should Genetic Studies Be Considered?
Journal of pediatric hematology/oncology - 1 Nov 2024
Camacho-Arias Mónica, Villa Marta, Álvarez de Andres Sara, Rivera Bárbara, Vázquez Paula, Letón Patricia, Martín-López Laura, Osuna-Marco Marta Pilar, López-Ibor Blanca
Abstract excerpt
Early detection of cancer predisposition syndromes (CPS) is crucial to determine optimal treatments and follow-up, and to provide appropriate genetic counseling. This study outlines an approach in a pediatric oncology unit, where 50 randomly selected patients underwent clinical assessment, leading to 44 eligible for genetic testing. We identified 2 pathogenic or likely pathogenic variants in genes associated with...
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