Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
Future Oncol
; 7(2): 253-61, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-21345144
ABSTRACT
It is clear that FANCJ, also known as BACH1 or BRIP1, is an essential tumor suppressor gene based on the identification of clinically relevant mutations not only in breast cancer, but also the childhood cancer syndrome, Fanconi anemia. This conclusion is further supported by the direct and functional interaction between FANCJ and the hereditary breast cancer-associated gene product BRCA1. In the absence of the FANCJ DNA helicase or its interaction with BRCA1, cells have defects in several aspects of the DNA damage response. In particular, the BRCA1-FANCJ interaction is essential for promoting error-free repair, checkpoint control and for limiting DNA damage tolerance. As the number of FANCJ clinical mutations and affected patients accumulate, it will be critical to understand whether the associated tumors resemble BRCA-associated tumors. If so, FANCJ patients could also benefit from new therapies that selectively sensitize DNA repair-defective tumors and spare healthy cells. In this article, we summarize the breast cancer-associated FANCJ mutations and discuss functional outcomes for DNA repair and tumor suppression.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
/
Proteína BRCA1
/
Proteínas Supressoras de Tumor
/
Fatores de Transcrição de Zíper de Leucina Básica
/
Proteínas de Grupos de Complementação da Anemia de Fanconi
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
Future Oncol
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Estados Unidos