Genetic Risk Factors and Clinical Outcomes in Childhood Eye Cancers: A Review

Genes (Basel). 2024 Feb 22;15(3):276. doi: 10.3390/genes15030276.

Abstract

Childhood eye cancers, although rare, present substantial health challenges, affecting the pediatric population with a remarkable impact on their lives and families. This comprehensive review provides insights into the various types of ocular tumors, primarily focusing on malignant eye tumors, their genetic predispositions, and advancements in managing these conditions. Understanding the genetic risk factors is crucial for early detection, risk assessment, and the development of targeted therapies. This review discusses genome-wide association (GWAS) and next-generation sequencing (NGS) studies to find common and rare genetic variants. Furthermore, it also explores the outcomes and implications of these genetic discoveries in treating pediatric ocular cancer. These findings underscore the significance of genetic research in guiding early interventions and improving outcomes in children with ocular cancers.

Keywords: GWAS; NGS; childhood eye cancer; common variant; genetic association; genetic etiology; heritability; predisposition; rare variant; survivorship; susceptibility.

Publication types

  • Review

MeSH terms

  • Child
  • Eye Neoplasms*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Risk Factors

Grants and funding

Internal funding from the Research Department, King Khaled Eye Specialist Hospital, Riyadh, and the Department of Translational Medicine, University of Ferrara, Ferrara, Italy supported this work.