The evolutionary impact of childhood cancer on the human gene pool

• Published in: Nature communications Vol. 15; no. 1; pp. 1881 - 15
• Main Authors: Stoltze, Ulrik Kristoffer, Foss-Skiftesvik, Jon, Hansen, Thomas van Overeem, Rasmussen, Simon, Karczewski, Konrad J., Wadt, Karin A. W., Schmiegelow, Kjeld
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 29.02.2024; Nature Publishing Group; Nature Portfolio
• Subjects: 631/181/2474; 631/208/2489/68; 631/67/69; 692/4028/67/2332; Cancer; Childhood; Children; Constraints; Empirical analysis; Gene pool; Gene sequencing; Genes; Genomics; Health risks; Humanities and Social Sciences; MSH2 protein; multidisciplinary; Natural selection; Pediatrics; Population genetics; Risk; Science; Science (multidisciplinary)

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...