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Article

The evolutionary impact of childhood cancer on the human gene pool.

Nature communications - 29 Feb 2024

Stoltze Ulrik Kristoffer, Foss-Skiftesvik Jon, Hansen Thomas van Overeem, Rasmussen Simon, Karczewski Konrad J, Wadt Karin A W, Schmiegelow Kjeld

Abstract excerpt

Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38424437
DOI: 10.1038/s41467-024-45975-9
PMCID: PMC10904397

Genes

DIS3L2
ELP1
GPR161
MSH2
SDHA
VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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