Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome
Annals of Laboratory Medicine
;
: 148-154, 2020.
Artículo
en Inglés
| WPRIM
| ID: wpr-762472
ABSTRACT
BACKGROUND:
Hereditary breast and ovarian cancer syndrome (HBOC) is caused by pathogenic variants in BRCA and other cancer-related genes. We analyzed variants in BRCA gene and other cancer-related genes in HBOC patients to evaluate the clinical validity of next-generation sequencing (NGS) multi-gene panel testing.METHODS:
The BRCA1/2 NGS testing was conducted for 262 HBOC patients. Multiplex ligation-dependent probe amplification and direct Sanger sequencing were performed for confirmation. Multi-gene panel testing was conducted for 120 patients who did not possess BRCA1/2 pathogenic variants but met the National Comprehensive Cancer Network criteria.RESULTS:
Pathogenic variants in BRCA1/2 were detected in 30 HBOC patients (11.5%). Additionally, four out of the 120 patients possessed pathogenic variants by multi-gene panel testing (3.3%) MSH2 (c.256G>T, p.Glu86*), PMS2 (c.1687C>T, p.Arg563*), CHEK2 (c.546C>A, p.Tyr182*), and PALB2 (c.3351-1G>C). All the four patients had a family history of cancer.CONCLUSIONS:
Multi-gene panel testing could be a significant screening tool for HBOC patients, especially for those with a family history of cancer.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Tamizaje Masivo
/
Síndrome de Cáncer de Mama y Ovario Hereditario
/
Reacción en Cadena de la Polimerasa Multiplex
Tipo de estudio:
Estudio pronóstico
/
Estudio de tamizaje
Límite:
Humanos
Idioma:
Inglés
Revista:
Annals of Laboratory Medicine
Año:
2020
Tipo del documento:
Artículo
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