Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

@article{Lovelock2007IdentificationOB,
  title={Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?},
  author={Paul K. Lovelock and Amanda B Spurdle and Myth T S Mok and Daniel J. Farrugia and Sunil R Lakhani and Sue Healey and Stephen E. Arnold and Daniel D Buchanan and kConFab investigators and Fergus J. Couch and Beric R. Henderson and David E. Goldgar and Sean V. Tavtigian and Georgia Chenevix-Trench and Melissa A Brown},
  journal={Breast Cancer Research : BCR},
  year={2007},
  volume={9},
  pages={R82 - R82}
}
Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both multifactorial likelihood analysis and functional approaches have been proposed as a means to elucidate likely clinical significance of such variants, but analysis of the comparative value of these methods for classifying all sequence variants has been limited. We have compared the results from multifactorial likelihood analysis with… CONTINUE READING

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