Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors.
Pediatric blood & cancer
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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
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Journal | Pediatric blood & cancer
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Pages | e30643
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Date Published | 08/2023
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ISSN | 1545-5017
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DOI | 10.1002/pbc.30643
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PubMed ID | 37596911
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