Mar 1, 2018

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours

Nature
Xiaotu MaJinghui Zhang

Abstract

Analysis of molecular aberrations across multiple cancer types, known as pan-cancer analysis, identifies commonalities and differences in key biological processes that are dysregulated in cancer cells from diverse lineages. Pan-cancer analyses have been performed for adult but not paediatric cancers, which commonly occur in developing mesodermic rather than adult epithelial tissues. Here we present a pan-cancer study of somatic alterations, including single nucleotide variants, small insertions or deletions, structural variations, copy number alterations, gene fusions and internal tandem duplications in 1,699 paediatric leukaemias and solid tumours across six histotypes, with whole-genome, whole-exome and transcriptome sequencing data processed under a uniform analytical framework. We report 142 driver genes in paediatric cancers, of which only 45% match those found in adult pan-cancer studies; copy number alterations and structural variants constituted the majority (62%) of events. Eleven genome-wide mutational signatures were identified, including one attributed to ultraviolet-light exposure in eight aneuploid leukaemias. Transcription of the mutant allele was detectable for 34% of protein-coding mutations, and 20% exhibited ...Continue Reading

  • References56
  • Citations125

References

  • References56
  • Citations125

Citations

Mentioned in this Paper

Study
Gene Expression Regulation, Neoplastic
DNA Copy Number Changes
Genome
Genes
Transcription, Genetic
Neoplasms
Molecular_function
Aneuploid Cell
Gene Deletion

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