A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

J Genet Couns. 2017 Jun;26(3):387-434. doi: 10.1007/s10897-017-0077-8. Epub 2017 Mar 29.


An understanding of the role of inherited cancer predisposition syndromes in pediatric tumor diagnoses continues to develop as more information is learned through the application of genomic technology. Identifying patients and their relatives at an increased risk for developing cancer is an important step in the care of this patient population. The purpose of this review is to highlight various tumor types that arise in the pediatric population and the cancer predisposition syndromes associated with those tumors. The review serves as a guide for recognizing genes and conditions to consider when a pediatric cancer referral presents to the genetics clinic.

Keywords: Cancer; Genetic testing; Genetics; Pediatric cancer predisposition; Tumors.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Infant
  • Male
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / genetics*
  • Practice Guidelines as Topic
  • Referral and Consultation
  • Young Adult