Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families.

@article{Hofmann2002DetectionOL,
  title={Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families.},
  author={Wera Hofmann and Barbara Wappenschmidt and Sarah Berhane and Rita Schmutzler and Siegfried Scherneck},
  journal={Journal of medical genetics},
  year={2002},
  volume={39 7},
  pages={E36}
}
The breast and ovarian cancer susceptibility gene BRCA1 contains an unusually high density (41.5%) of Alu elements. The homology between these repetitive Alu sequences can promote ectopic or homotopic homologous recombination. Ectopic homologous recombination, such as that reported in the BRCA1 gene, leads to large genomic rearrangements, which subsequently may cause disease phenotypes. In the BRCA1 gene, a number of different Alu mediated rearrangements, ranging from 510 bp to 23.8 kb, have… CONTINUE READING