Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2
Salgado J [SP], Gutiérrez C, Gil C, Robles M, García-Foncillas J.
Clinical Genetics Unit, University Clinic of Navarra, Avda Pio XII 36, 31008 Pamplona, Navarra, Spain
Magazine: Breast Cancer Research and Treatment
Date: Aug 1, 2010Breast Cancer Area Clinical Genetics Unit [SP]
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.
CITATION Breast Cancer Res Treat. 2010 Aug;123(1):291-3
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