A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17.

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.

journal_name

Cancer Res

journal_title

Cancer research

authors

Puget N,Torchard D,Serova-Sinilnikova OM,Lynch HT,Feunteun J,Lenoir GM,Mazoyer S

subject

Has Abstract

pub_date

1997-03-01 00:00:00

pages

828-31

issue

5

eissn

0008-5472

issn

1538-7445

journal_volume

57

pub_type

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