Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors

Nat Commun. 2020 May 5;11(1):2206. doi: 10.1038/s41467-020-16067-1.

Abstract

Compared to adult carcinomas, there is a paucity of targeted treatments for solid tumors in children, adolescents, and young adults (C-AYA). The impact of germline genomic signatures has implications for heritability, but its impact on targeted therapies has not been fully appreciated. Performing variant-prioritization analysis on germline DNA of 1,507 C-AYA patients with solid tumors, we show 12% of these patients carrying germline pathogenic and/or likely pathogenic variants (P/LP) in known cancer-predisposing genes (KCPG). An additional 61% have germline pathogenic variants in non-KCPG genes, including PRKN, SMARCAL1, SMAD7, which we refer to as candidate genes. Despite germline variants in a broad gene spectrum, pathway analysis leads to top networks centering around p53. Our drug-target analysis shows 1/3 of patients with germline P/LP variants have at least one druggable alteration, while more than half of them are from our candidate gene group, which would otherwise go unidentified in routine clinical care.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Case-Control Studies
  • Child
  • DNA Helicases / genetics
  • Exome Sequencing / methods
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genomics / methods*
  • Germ Cells / metabolism*
  • Germ-Line Mutation*
  • Humans
  • Male
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Smad7 Protein / genetics
  • Ubiquitin-Protein Ligases / genetics
  • Young Adult

Substances

  • SMAD7 protein, human
  • Smad7 Protein
  • Ubiquitin-Protein Ligases
  • parkin protein
  • SMARCAL1 protein, human
  • DNA Helicases