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Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
Authors:Logan C. Walker  Phillip J. Whiley  Fergus J. Couch  Daniel J. Farrugia  Sue Healey  Diana M. Eccles  Feng Lin  Samantha A. Butler  Sheila A. Goff  Bryony A. Thompson  Sunil R. Lakhani  Leonard M. Da Silva  Sean V. Tavtigian  David E. Goldgar  Melissa A. Brown  Amanda B. Spurdle
Affiliation:1. Queensland Institute of Medical Research, Brisbane, Australia;2. School of Chemistry and Molecular Sciences, University of Queensland, Brisbane, Australia;3. Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota;4. University of Southampton School of Medicine, Southampton, UK;5. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK;6. Medical Genetics Unit, St. Georges University of London, UK;7. Molecular & Cellular Pathology, UQ Centre for Clinical Research & School of Medicine, University of Queensland, Brisbane, Australia;8. Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City;9. Department of Dermatology, University of Utah, Salt Lake City
Abstract:
Keywords:BRCA1  BRCA2  clinical significance  variants  splicing
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