DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

PURPOSE: Gross duplications are ambiguous in terms of clinical interpretation due to the limitations of the detection methods that cannot infer their context, namely, whether they occur in tandem or are duplicated and inserted elsewhere in the genome. We investigated the proportion of gross duplicat...

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Detalles Bibliográficos
Autores principales: Richardson, Marcy E., Chong, Hansook, Mu, Wenbo, Conner, Blair R., Hsuan, Vickie, Willett, Sara, Lam, Stephanie, Tsai, Pei, Pesaran, Tina, Chamberlin, Adam C., Park, Min-Sun, Gray, Phillip, Karam, Rachid, Elliott, Aaron
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752314/
https://www.ncbi.nlm.nih.gov/pubmed/30054569
http://dx.doi.org/10.1038/s41436-018-0092-7

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