Article

Role of a childhood cancer-linked BRIP1/FANCJ germline variant in genomic instability and cancer cell vulnerability

2026-03-27

Abstract excerpt

<h4>Summary</h4> Childhood cancer is frequently associated with inherited pathogenic variants of cancer predisposition genes. Using Whole-Exome Sequencing, we identified an inherited, monoallelic pediatric cancer-linked germline variant of DNA helicase FANCJ/BRIP1, BRIP1 R162Q of unclear clinical significance. Intriguingly, in vitro helicase assays demonstrated that BRIP1 R162Q encodes a hyperactive DNA helica...

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Identifiers and source

Literature Corpus work: 6c409e5d-248e-5305-85bd-942ec352c534
DOI: 10.64898/2026.03.24.714005

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