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Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories

PURPOSE: Genetic tests of cancer predisposition genes, BRCA1 and BRCA2, inform significant clinical decisions for both physicians and patients. Most uncovered variants are benign, and determining which few are pathogenic—disease causing—is sometimes challenging and can potentially be inconsistent am...

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Detalles Bibliográficos
Autores principales: Lincoln, Stephen E., Yang, Shan, Cline, Melissa S., Kobayashi, Yuya, Zhang, Can, Topper, Scott, Haussler, David, Paten, Benedict, Nussbaum, Robert L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Clinical Oncology 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5542009/
https://www.ncbi.nlm.nih.gov/pubmed/28782058
http://dx.doi.org/10.1200/PO.16.00020