A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17.
Cancer Res
; 57(5): 828-31, 1997 Mar 01.
Article
en En
| MEDLINE
| ID: mdl-9041180
ABSTRACT
Although more than 100 different BRCA1 germ-line mutations have already been identified in breast and/or ovarian cancer families, we report for the first time a deleterious genomic rearrangement in BRCA1. A 1-kb deletion comprising exon 17 was found in a large breast and ovarian cancer family, leading to a frameshift in the mutant mRNA due to the absence of exon 17. This deletion is probably the result of a recombination between two closely related Alu sequences. It was not detected by conventional PCR-based methods involving the genomic screening of the 22 coding exons or reverse transcription-PCR because the transcript without exon 17 is unstable in lymphoblastoid cell lines. Therefore, rearrangements in the BRCA1 gene should be sought in breast/ovarian cancer families in which no mutations have been found by PCR-based methods in the coding region or in the splice sites.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
/
Neoplasias de la Mama
/
Secuencias Repetitivas de Ácidos Nucleicos
/
Proteína BRCA1
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Cancer Res
Año:
1997
Tipo del documento:
Article
País de afiliación:
Francia