Related Experiment Video
Updated: Jun 16, 2026
08:53
Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2
Josefa Salgado1, Cristina Gutiérrez, Carmen Gil
1Clinical Genetics Unit, University Clinic of Navarra, Avda Pio XII 36, 31008 Pamplona, Navarra, Spain. jsalgadog@unav.es
Breast Cancer Research and Treatment
|February 13, 2010
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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