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Cancer Predisposition Syndromes in Children: Who, How and When Should Genetic Studies Be Considered?
  • +6
  • Mónica Camacho,
  • Marta Villa,
  • Sara Álvarez de Andres,
  • Bárbara Rivera,
  • Paula Vázquez,
  • Patricia Letón,
  • Laura Martín,
  • Marta Pilar Osuna-Marco,
  • Blanca López-Ibor
Mónica Camacho
Hospital Universitario HM Monteprincipe

Corresponding Author:[email protected]

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Marta Villa
Hospital Universitario HM Monteprincipe
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Sara Álvarez de Andres
NIMGenetics Genomica y Medicina SL
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Bárbara Rivera
Institut d'Investigacio Biomedica de Bellvitge
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Paula Vázquez
Hospital Universitario HM Monteprincipe
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Patricia Letón
Hospital Universitario HM Monteprincipe
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Laura Martín
Hospital Universitario HM Monteprincipe
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Marta Pilar Osuna-Marco
Hospital Universitario HM Monteprincipe
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Blanca López-Ibor
Hospital Universitario HM Monteprincipe
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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 3 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.