Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.

doi:10.1200/JCO-25-01114

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Article

Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 20 Dec 2025

Oak Ninad, Chen Wenan, Blake Alise, Harrison Lynn, O'Brien Martha, Previti Christopher, Balasubramanian Gnanaprakash, Maass Kendra, Hirsch Steffen, Penkert Judith, Jones Barbara C, Schramm Kathrin, Nathrath Michaela, Pajtler Kristian W, Jones David T W, Witt Olaf, Dirksen Uta, Li Jiaming, Sapkota Yadav, Ness Kirsten K, Guenther Lillian M, Pfister Stefan M, Kratz Christian, Wang Zhaoming, Armstrong Greg T, Hudson Melissa M, Wu Gang, Autry Robert J, Nichols Kim E, Sharma Richa

Abstract excerpt

PURPOSE: Recent studies reveal that 5%-18% of children with cancer harbor pathogenic variants in known cancer-predisposing genes. However, DNA damage repair (DDR) genes, which are frequently somatically altered in pediatric tumors, have not been systematically examined as a source of novel cancer-predisposing signals. METHODS: To address this gap, we interrogated 189 DDR genes for presence of germline...

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Identifiers

PMID: 41066719
DOI: 10.1200/JCO-25-01114
PMCID: PMC12643103

Genes

SMARCAL1
MB
TP53
BARD1
BRCA1
BRCA2
MLH1
PMS2
SMC5
SPIDR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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