Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

Many variants of uncertain significance (VUS) have been identified in BRCA2 through clinical genetic testing. VUS pose a significant clinical challenge because the contribution of these variants to cancer risk has not been determined. We conducted a comprehensive assessment of VUS in the BRCA2 C-ter...

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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Guidugli, Lucia, Shimelis, Hermela, Masica, David L., Pankratz, Vernon S., Lipton, Gary B., Singh, Namit, Hu, Chunling, Monteiro, Alvaro N.A., Lindor, Noralane M., Goldgar, David E., Karchin, Rachel, Iversen, Edwin S., Couch, Fergus J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985401/
https://ncbi.nlm.nih.gov/pubmed/29394989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.12.013
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