A classification model for BRCA2 DNA binding domain missense variants based on homology directed repair activity

The relevance of many BRCA2 variants of uncertain significance (VUS) to breast cancer has not been determined due to limited genetic information from families carrying these alterations. Here we classified six new variants as pathogenic or non-pathogenic by analysis of genetic information from famil...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Guidugli, Lucia, Pankratz, V. Shane, Singh, Namit, Thompson, James, Erding, Catherine A, Engel, Christoph, Schmutzler, Rita, Domchek, Susan, Nathanson, Katherine, Radice, Paolo, Singer, Christian, Tonin, Patricia N., Lindor, Noralane M., Goldgar, David E., Couch, Fergus J.
التنسيق: Artigo
اللغة:Inglês
منشور في: 2012
الموضوعات:
Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC3537884/
https://ncbi.nlm.nih.gov/pubmed/23108138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/0008-5472.CAN-12-2081
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