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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance |
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| Authors: | Marcy E. Richardson Chunling Hu Kun Y. Lee Holly LaDuca Kelly Fulk Kate M. Durda Ashley M. Deckman David E. Goldgar Alvaro N.A. Monteiro Rohan Gnanaolivu Steven N. Hart Eric C. Polley Elizabeth Chao Tina Pesaran Fergus J. Couch |
| Affiliation: | 1. Ambry Genetics, Aliso Viejo, CA 92656, USA;2. Mayo Clinic, Rochester, MN 55905, USA;3. University of Utah, Salt Lake City, UT 84132, USA;4. Moffitt Cancer Center, Tampa, FL 33612, USA |
| Abstract: | |
| Keywords: | predisposition gene BRCA2 variant of uncertain significance functional assay breast cancer ACMG/AMP |
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