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Article

Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.

Pediatric research - 1 Apr 2024

Dangoni Gustavo D, Teixeira Anne Caroline B, da Costa Silvia S, Scliar Marília O, Carvalho Laura M L, Silva Luciana N, Novak Estela M, Vince Carolina S C, Maschietto Mariana C, Sugayama Sofia M M, Odone-Filho Vicente, Krepischi Ana Cristina V

Abstract excerpt

BACKGROUND: Childhood cancer has a poorly known etiology, and investigating the underlying genetic background may provide novel insights. A recognized association exists between non-chromosomal birth defects and childhood cancer susceptibility. METHODS: We performed whole-exome sequencing and chromosomal microarray analysis in a cohort of childhood cancer (22 individuals, 50% with congenital anomalies) to unravel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38182823
DOI: 10.1038/s41390-023-03000-7

Genes

JAG1
KAT6A
SETD5
TNFRSF13B
IMPACT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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