A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

@article{Easton2007ASG,
  title={A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.},
  author={Douglas F. Easton and Amie M. Deffenbaugh and Dmitry R Pruss and Cynthia A. Frye and Richard J. Wenstrup and Kristina Allen-Brady and Sean V. Tavtigian and Alvaro N. A. Monteiro and Edwin S. Iversen and Fergus J. Couch and David E. Goldgar},
  journal={American journal of human genetics},
  year={2007},
  volume={81 5},
  pages={873-83}
}
Mutation screening of the breast and ovarian cancer-predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice. Classification of rare nontruncating sequence variants in these genes is problematic, because it is not known whether these subtle changes alter function sufficiently to predispose cells to cancer development. Using data from the Myriad Genetic Laboratories database of nearly 70,000 full-sequence tests, we assessed the clinical significance of… CONTINUE READING
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