Article
Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
Breast cancer research and treatment - 1 Apr 2015
Ahlborn Lise B, Dandanell Mette, Steffensen Ane Y, Jønson Lars, Nielsen Finn C, Hansen Thomas V O
Abstract excerpt
Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient and family management. Therefore, functional examinations are urgently needed to classify whether these uncertain variants are pathogenic or benign. In this study, we investigated 14 BRCA1...
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