The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer / 한국유방암학회지
Journal of Breast Cancer
;
: 330-333, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-716742
ABSTRACT
In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutation leads to the truncation of BRCA2 functional domains. Moreover, BRCA2 mRNA expression levels in mutation carriers are significantly reduced compared to noncarriers. Immunofluorescence and western blot assays showed that this mutation resulted in reduced BRCA2 protein expression. Thus, we identified a novel mutation that damaged the function and expression of BRCA2 in a family with breast cancer history. The pedigree analysis suggested that this mutation is strongly associated with familial breast cancer. Genetic counsellors suggest that mutation carriers in this family undergo routine screening for breast cancer, as well as other malignancies, such as prostate and ovarian cancer. The effects of this BRCA2 mutation on drug resistance should be taken into consideration during treatment.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Neoplasias Ovarianas
/
Linhagem
/
Próstata
/
Mama
/
Neoplasias da Mama
/
Resistência a Medicamentos
/
RNA Mensageiro
/
Programas de Rastreamento
/
Western Blotting
/
Imunofluorescência
Tipo de estudo:
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Breast Cancer
Ano de publicação:
2018
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS