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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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Published on: September 20, 2016

Genetic Predisposition to Solid Pediatric Cancers.

Mario Capasso^1,2, Annalaura Montella², Matilde Tirelli^2,3

¹Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.

Frontiers in Oncology

|November 16, 2020

Summary

This summary is machine-generated.

Germline genetic variants increase pediatric cancer risk in approximately 10% of young patients. Understanding these genetic predispositions and their interactions with somatic changes is crucial for diagnosis and treatment.

Keywords:

SNP cancer predisposition genes cancer susceptibility genetic predisposition germline variants germline-somatic interaction next generation sequencing pediatric tumors

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Area of Science:

Genetics
Pediatric Oncology
Cancer Genomics

Background:

Genome-scale analyses, including exome and genome sequencing, have advanced the identification of genetic factors in pediatric tumors.
Approximately 10% of children and adolescents with tumors possess germline genetic variants linked to cancer predisposition.

Purpose of the Study:

To review genetic variations predisposing to pediatric solid tumors.
To outline affected biological processes and associated cancer syndromes.
To emphasize the interplay between germline and somatic alterations in cancer development.

Main Methods:

Review of existing literature on genetic variations in pediatric solid tumors.
Analysis of biological pathways impacted by mutated genes.
Examination of genetic syndromes associated with increased pediatric cancer risk.

Main Results:

Identification of key germline variants predisposing to specific pediatric solid tumors (medulloblastoma, neuroblastoma, retinoblastoma, etc.).
Elucidation of biological processes disrupted by these variants.
Highlighting the critical role of germline-somatic interactions in pediatric tumorigenesis.

Conclusions:

Germline genetic predisposition plays a significant role in pediatric cancers.
Future research should focus on the functional impact of risk alleles and germline-somatic interactions.
Development of molecular diagnostics and integration of genetic predisposition into screening and therapy are essential.