Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

Sequencing tests assaying panels of genes or whole exomes are widely available for cancer risk evaluation. However, methods for classification of variants resulting from this testing are not well studied. We evaluated the ability of a variant-classification methodology based on American College of M...

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Détails bibliographiques
Publié dans:Am J Hum Genet
Auteurs principaux: Maxwell, Kara N., Hart, Steven N., Vijai, Joseph, Schrader, Kasmintan A., Slavin, Thomas P., Thomas, Tinu, Wubbenhorst, Bradley, Ravichandran, Vignesh, Moore, Raymond M., Hu, Chunling, Guidugli, Lucia, Wenz, Brandon, Domchek, Susan M., Robson, Mark E., Szabo, Csilla, Neuhausen, Susan L., Weitzel, Jeffrey N., Offit, Kenneth, Couch, Fergus J., Nathanson, Katherine L.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4863474/
https://ncbi.nlm.nih.gov/pubmed/27153395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.02.024
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