Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients / 전남의대학술지
Chonnam Medical Journal
; : 99-103, 2019.
Article
em En
| WPRIM
| ID: wpr-763277
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Mama
/
Neoplasias da Mama
/
Éxons
/
Mutação em Linhagem Germinativa
/
Proteína BRCA1
/
Polimorfismo de Nucleotídeo Único
/
Proteína BRCA2
/
Genes BRCA2
/
Taxa de Mutação
/
Coreia (Geográfico)
Limite:
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Chonnam Medical Journal
Ano de publicação:
2019
Tipo de documento:
Article