Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients / 전남의대학술지
Chonnam Medical Journal
;
: 99-103, 2019.
Artículo
en Inglés
| WPRIM
| ID: wpr-763277
ABSTRACT
Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15–20% of hereditary breast cancer. We investigated the BRCA1 and BRCA2 mutations in 114 familial breast cancer patients using next-generation sequencing. We confirmed 20 different mutations of BRCA1 and BRCA2 in 25 subjects (21.9%). Two such mutations in eight patients were novel (not reported in any variant database or previous study). Six mutations have been reported as disease-causing mutations in public databases. Seven mutations were found only in a single nucleotide polymorphism database and one mutation has been reported in Korea. The BRCA1/2 mutation frequency was similar to that of other studies on familial breast cancer patients in the Korean population. Further studies should examine more cases and mutations of whole exons.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Mama
/
Neoplasias de la Mama
/
Exones
/
Mutación de Línea Germinal
/
Proteína BRCA1
/
Polimorfismo de Nucleótido Simple
/
Proteína BRCA2
/
Genes BRCA2
/
Tasa de Mutación
/
Corea (Geográfico)
Límite:
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Chonnam Medical Journal
Año:
2019
Tipo del documento:
Artículo
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