Abstract
We report a novel germline 490delCT mutation in BRCA2 gene, detected in a 38-year-old woman with breast cancer. The mutation originates a premature stop at codon 99, leading to a truncated protein, and has not been documented in any published report to the best of our knowledge.
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Acknowledgments
We are grateful to all the patients and families that participate in our genetic counseling, clinicians, and genetic counselors of the Department of Oncology and the Clinical Genetics Unit for their support and encouragement. Cristina Gutierrez has an ADA fellowship from the University of Navarra, Navarra, Spain.
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Salgado, J., Gutiérrez, C., Gil, C. et al. Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2 . Breast Cancer Res Treat 123, 291–293 (2010). https://doi.org/10.1007/s10549-010-0776-4
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DOI: https://doi.org/10.1007/s10549-010-0776-4