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 Resjournal_title
Cancer researchauthors
Puget N,Torchard D,Serova-Sinilnikova OM,Lynch HT,Feunteun J,Lenoir GM,Mazoyer Ssubject
Has Abstractpub_date
1997-03-01 00:00:00pages
828-31issue
5eissn
0008-5472issn
1538-7445journal_volume
57pub_type
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