Genetic predisposition to cancer: Surveillance and intervention

Semin Pediatr Surg. 2019 Dec;28(6):150858. doi: 10.1016/j.sempedsurg.2019.150858. Epub 2019 Nov 20.

Abstract

Cancer is one of the leading causes of early mortality for children and adolescents. Identifiable genetic cancer predisposition conditions account for a growing proportion of pediatric and adolescent cancer, likely due to increasing knowledge about various predisposition conditions, more widespread cancer genetic counseling, and available diagnostics. Greater awareness, data-driven surgical intervention and clinical surveillance can help facilitate cancer prevention and early detection at cancer stages more amenable to cure. An extensive literature review of published studies and expert opinion with consensus guidelines are reviewed. Specific syndromes where genetics, imaging and surgical intervention are utilized to benefit affected patients and families are presented. In many tumor predisposition syndromes, the underlying genetic diagnosis is made concurrently, or after, malignancy is identified. Improved recognition of underlying predispositions, along with appropriate surgical interventions and imaging surveillance should lead to increased patient survival.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Genetic Predisposition to Disease*
  • Humans
  • Neoplasms / diagnosis*
  • Neoplasms / genetics*
  • Neoplasms / therapy*