Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

@article{Whiley2011SplicingAM,
  title={Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.},
  author={Phillip J. Whiley and Lucia Guidugli and Logan C Walker and Sue Healey and Bryony A Thompson and Sunil R Lakhani and Leonard M Da Silva and Sean V. Tavtigian and David E. Goldgar and Melissa A Brown and Fergus J. Couch and Amanda B. Spurdle},
  journal={Human mutation},
  year={2011},
  volume={32 6},
  pages={
          678-87
        }
}
Clinical management of breast cancer families is complicated by identification of BRCA1 and BRCA2 sequence alterations of unknown significance. Molecular assays evaluating the effect of intronic variants on native splicing can help determine their clinical relevance. Twenty-six intronic BRCA1/2 variants ranging from the consensus dinucleotides in the splice acceptor or donor to 53 nucleotides into the intron were identified in multiple-case families. The effect of the variants on splicing was… CONTINUE READING
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