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

Nadine Puget, Delphine Torchard, Olga M. Serova-Sinilnikova, Henry T. Lynch, Jean Feunteun, Gilbert M. Lenoir, Sylvie Mazoyer

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153 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)828-831
Number of pages4
JournalCancer Research
Issue number5
StatePublished - Mar 11 1997

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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