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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay

Clinical genetic testing for hereditary breast and ovarian cancer (HBOC) is becoming widespread. However, the interpretation of variants of unknown significance (VUS) in HBOC genes, such as the clinically actionable genes BRCA1 and BRCA2, remain a challenge. Among the variants that are frequently cl...

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Detalles Bibliográficos
Autores principales: Farber-Katz, Suzette, Hsuan, Vickie, Wu, Sitao, Landrith, Tyler, Vuong, Huy, Xu, Dong, Li, Bing, Hoo, Jayne, Lam, Stephanie, Nashed, Sarah, Toppmeyer, Deborah, Gray, Phillip, Haynes, Ginger, Lu, Hsiao-Mei, Elliott, Aaron, Tippin Davis, Brigette, Karam, Rachid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072868/
https://www.ncbi.nlm.nih.gov/pubmed/30101128
http://dx.doi.org/10.3389/fonc.2018.00286