Genomic rearrangements in the BRCA1 and BRCA2 genes

@article{Mazoyer2005GenomicRI,
  title={Genomic rearrangements in the BRCA1 and BRCA2 genes},
  author={Sylvie Mazoyer},
  journal={Human Mutation},
  year={2005},
  volume={25}
}
  • S. Mazoyer
  • Published 1 May 2005
  • Biology, Medicine
  • Human Mutation
Mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. BRCA1 and BRCA2 are 83 and 86 kb long, with coding sequences of 5.7 and 10.2 kb, scattered over 22 and 26 coding exons, respectively. The large majority of the alterations identified in these genes are point mutations and small insertions/deletions. However, an increasing number of large genomic rearrangements are being identified, especially in BRCA1. This review gives a brief overview of the techniques used… 
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This study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCa2.
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TLDR
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TLDR
The characterization of pathogenic deletions of exons 1a-2 of BRCA1 in six families using loss of heterozygosity, array comparative genomic hybridization, and sequence analyses demonstrates that this type of deletions is relatively frequent in breast/ovarian cancer families.
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TLDR
A bar code on combed DNA for the BRCA2 gene is developed, which leads to a panoramic view of this gene and its flanking regions, as previously described for BRCa1, to detect large rearrangements in defined series of breast cancer cases.
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TLDR
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