Genetic Predisposition to Solid Pediatric Cancers

Frontiers in Oncology
Mario CapassoAchille Iolascon

Abstract

Progresses over the past years have extensively improved our capacity to use genome-scale analyses-including high-density genotyping and exome and genome sequencing-to identify the genetic basis of pediatric tumors. In particular, exome sequencing has contributed to the evidence that about 10% of children and adolescents with tumors have germline genetic variants associated with cancer predisposition. In this review, we provide an overview of genetic variations predisposing to solid pediatric tumors (medulloblastoma, ependymoma, astrocytoma, neuroblastoma, retinoblastoma, Wilms tumor, osteosarcoma, rhabdomyosarcoma, and Ewing sarcoma) and outline the biological processes affected by the involved mutated genes. A careful description of the genetic basis underlying a large number of syndromes associated with an increased risk of pediatric cancer is also reported. We place particular emphasis on the emerging view that interactions between germline and somatic alterations are a key determinant of cancer development. We propose future research directions, which focus on the biological function of pediatric risk alleles and on the potential links between the germline genome and somatic changes. Finally, the importance of developing n...Continue Reading

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Citations

Apr 21, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Louis P DehnerKris Ann P Schultz
Oct 3, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Iván A GonzálezLouis P Dehner

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Methods Mentioned

BETA
chromosomic aberrations
chromosomal aberrations

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