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

Abstract

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… (More)

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@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} }