| Autor: |
Iversen Jr., Edwin S., Couch, Fergus J., Goldgar, David E., Tavtigian, Sean V., Monteiro, Alvaro N. A. |
| Zdroj: |
Cancer Epidemiology, Biomarkers & Prevention; Jun2011, Vol. 20 Issue 6, p1078-1088, 11p, 3 Charts, 2 Graphs |
| Abstrakt: |
The article describes the computational approach for classifying the disease relevance of variants of uncertain clinical significances (VUS) in disease genes using data derived from an in vitro functional assay with application to BRCA1. Results of the study revealed the correlation of functional data with the pathogenicity of Breast Cancer 1 (BRCA1) Breast Cancer 1 C Terminus (BRCT) VUSs. The findings provide evidence regarding pathogenicity in the absence of or uninformative family and genetic data. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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