BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.

@article{Anczukw2012BRCA2DI,
  title={BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.},
  author={Olga Anczuk{\'o}w and Monique Buisson and M{\'e}lanie L{\'e}on{\'e} and Christine Coutanson and Christine Lasset and Alain Calender and Olga Sinilnikova and Sylvie Mazoyer},
  journal={Clinical cancer research : an official journal of the American Association for Cancer Research},
  year={2012},
  volume={18 18},
  pages={4903-9}
}
PURPOSE Diagnostic screening of the BRCA1/2 genes in breast cancer families is mostly done on genomic DNA. For families with a very strong family history and no mutation identified in the coding sequences or the exon-intron boundaries, BRCA1/2 transcripts' analysis is an efficient approach to uncover gene inversion and pre-mRNA splicing defaults missed by conventional DNA-based protocols. EXPERIMENTAL DESIGN We analyzed RNA from patients of negative BRCA families by reverse transcriptase PCR… CONTINUE READING
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