Large genomic deletions inactivate the BRCA2 gene in breast cancer families.
J Med Genet
; 42(10): e64, 2005 Oct.
Article
en En
| MEDLINE
| ID: mdl-16199546
ABSTRACT
BACKGROUND:
BRCA1 and BRCA2 are the two major genes responsible for the breast and ovarian cancers that cluster in families with a genetically determined predisposition. However, regardless of the mutation detection method employed, the percentage of families without identifiable alterations of these genes exceeds 50%, even when applying stringent criteria for family selection. A small but significant increase in mutation detection rate has resulted from the discovery of large genomic alterations in BRCA1. A few studies have addressed the question of whether BRCA2 might be inactivated by the same kinds of alteration, but most were either done on a relatively small number of samples or employed cumbersome mutation detection methods of variable sensitivity.OBJECTIVE:
To analyse 121 highly selected families using the recently available BRCA2 multiplex ligation dependent probe amplification (MLPA) technique.RESULTS:
Three different large genomic deletions were identified and confirmed by analysis of the mutant transcript and genomic characterisation of the breakpoints.CONCLUSIONS:
Contrary to initial suggestions, the presence of BRCA2 genomic rearrangements is worth investigating in high risk breast or ovarian cancer families.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Neoplasias de la Mama
/
Pruebas Genéticas
/
Genoma
/
Eliminación de Gen
/
Proteína BRCA2
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
J Med Genet
Año:
2005
Tipo del documento:
Article
País de afiliación:
Italia