Genomic large rearrangement screening of BRCA1 and BRCA2 genes in high-risk Turkish breast/ovarian cancer patients by using multiplex ligation-dependent probe amplification assay.
Cancer Invest
; 29(1): 73-7, 2011 Jan.
Article
en En
| MEDLINE
| ID: mdl-20919953
ABSTRACT
In this study, MLPA assay was performed for detection of large rearrangements of BRCA1 and BRCA2 genes in 16 familial, 29 early onset, 3 male breast cancer, and 2 bilateral breast/ovarian cancer high risk Turkish index cases. MLPA assay for all exons of both genes and for 1100delC variant of CHEK2 gene were performed. Analyses, revealed no large genomic rearrangements in both genes, and, no 1100del variant in CHEK2 gene. Our data which represents the first results for Turkish patients, suggest that, the frequency of BRCA1 and BRCA2 genes' large rearrangements is very low.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
/
Neoplasias de la Mama
/
Reordenamiento Génico
/
Pruebas Genéticas
/
Tamizaje Masivo
/
Neoplasias de la Mama Masculina
/
Proteína BRCA1
/
Técnicas de Amplificación de Ácido Nucleico
/
Proteína BRCA2
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Cancer Invest
Año:
2011
Tipo del documento:
Article
País de afiliación:
Turquía