Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors.
Pediatr Blood Cancer
; 70(11): e30643, 2023 11.
Article
em En
| MEDLINE
| ID: mdl-37596911
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Neoplasias do Sistema Nervoso Central
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Blood Cancer
Ano de publicação:
2023
Tipo de documento:
Article