Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.
Exp Mol Pathol
; 116: 104483, 2020 10.
Article
en En
| MEDLINE
| ID: mdl-32531196
ABSTRACT
BRCA1, BRCA2, CHEK2 and PALB2 genes are associated with hereditary breast and ovarian cancer syndrome. Genetic testing of these genes is of increasing importance to guide therapeutic and management decisions. In this study, we evaluated the performance of a next generation sequencing (NGS) assay for the complete analysis of BRCA1, BRCA2, CHEK2 and PALB2 genes using Agilent's SureMASTR BRCA Screen that enabled the detection of single nucleotide variants (SNVs), small insertions/deletions (indels) and copy number variations (CNVs) in a single-tube PCR based library preparation. The results showed 100% sensitivity and specificity on a set of 52 known samples from de-identified patients and external quality assessment program. A concordance rate of 87.5% was achieved in the comparison of variant classification with the external laboratories. The high accuracy of the assay supports the use of SureMASTR BRCA Screen in clinical diagnostic laboratories (SureMASTR BRCA Screen is for research use only, not for use in diagnostic procedures).
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Proteína BRCA1
/
Proteína BRCA2
/
Quinasa de Punto de Control 2
/
Proteína del Grupo de Complementación N de la Anemia de Fanconi
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Exp Mol Pathol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Singapur