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Updated: Jun 13, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Cancer Predisposition Syndromes in Children: Who, How, and When Should Genetic Studies Be Considered?
Mónica Camacho-Arias1, Marta Villa1, Sara Álvarez de Andres2
1Pediatric Oncology Unit, Health Research Institute HM Hospitals, HM Montepríncipe University Hospital/CIOCC.
Abstract:
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 CPS and 6 variants of uncertain significance (VUS) potentially associated with cancer development. We emphasize the importance of a thorough and accurate collection of family history and physical examination data and the full coordination between pediatric oncologists and geneticists.
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