Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2 |
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| Authors: | Josefa Salgado Cristina Gutiérrez Carmen Gil Maitane Robles Jesús García-Foncillas |
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| Affiliation: | (1) Clinical Genetics Unit, University Clinic of Navarra (CUN), Avda. Pio XII, 36, 31008 Pamplona, Navarra, Spain;(2) Laboratory of Pharmacogenomics, Centre for Applied Medical Research (CIMA), Avda. Pio XII 55, 31008 Pamplona, Navarra, Spain |
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| 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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