Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors.

Pediatric blood & cancer
Authors
Keywords
Abstract

Utilization of tumor-only sequencing has expanded in pediatric cancer patients, which can lead to identification of pathogenic variants in genes that may be germline and/or have uncertain relevance to the tumor in question, such as the homologous recombination (HR) pathway genes BRCA1/2. We identified patients with pathogenic BRCA1/2 mutations from somatic tumor sequencing, and performed additional germline sequencing to assess for the presence of loss of heterozygosity (LOH). Of seven patients identified, four (57.1%) mutations were found in the germline and none had associated LOH. Our data suggest that BRCA1/2 mutations identified in this context are likely incidental findings.

Year of Publication
2023
Journal
Pediatric blood & cancer
Pages
e30643
Date Published
08/2023
ISSN
1545-5017
DOI
10.1002/pbc.30643
PubMed ID
37596911
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