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A Novel Splice Site Mutation in the Noncoding Region of BRCA2: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics
Authors:Janine L. Bakker  Eswary Thirthagiri  Saskia E. van Mil  Muriel A. Adank  Hideyuki Ikeda  Henk M. W. Verheul  Hanne Meijers‐Heijboer  Johan P. de Winter  Shyam K. Sharan  Quinten Waisfisz
Affiliation:1. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands;2. Mouse Cancer Genetics Program, Center of Cancer Research, National Cancer Institute at Frederick, Frederick, Maryland;3. Department of Surgical Pathology, Rumoi City Hospital, Rumoi, Japan;4. Department of Medical Oncology, VU University Medical Center, Amsterdam, The Netherlands
Abstract:
Keywords:Fanconi anemia  BRCA2  familial breast cancer  aberrant splicing
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