Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

PURPOSE: The identification of variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for the clinical management of variant carriers. The ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Patholog...

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Detalles Bibliográficos
Autores principales: Hu, Chunling, Susswein, Lisa R., Roberts, Maegan E., Yang, Hana, Marshall, Megan L., Hiraki, Susan, Berkofsky-Fessler, Windy, Gupta, Sounak, Shen, Wei, Dunn, Carolyn A., Huang, Huaizhi, Na, Jie, Domchek, Susan M., Yadav, Siddhartha, Monteiro, Alvaro N.A., Polley, Eric C., Hart, Steven N., Hruska, Kathleen S., Couch, Fergus J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for Cancer Research 2022
Materias:
Precision Medicine and Imaging
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433957/
https://www.ncbi.nlm.nih.gov/pubmed/35736817
http://dx.doi.org/10.1158/1078-0432.CCR-22-0203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433957/
https://www.ncbi.nlm.nih.gov/pubmed/35736817
http://dx.doi.org/10.1158/1078-0432.CCR-22-0203

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