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

@article{Puget1997A1A,
  title={A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17.},
  author={Nadine Puget and D. Torchard and Olga M. Serova-Sinilnikova and Henry T. Lynch and Jean Feunteun and Gilbert M. Lenoir and Sylvie Mazoyer},
  journal={Cancer research},
  year={1997},
  volume={57 5},
  pages={828-31}
}
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… CONTINUE READING

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