Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study

PURPOSE: While BRCA1/2 genes are commonly investigated, variants of unknown significance (VUS) and variants with potential splice effect are still being detected and they represent a substantial challenge in genetic counseling and therapy. MATERIALS AND METHODS: Out of genetically tested 3,568 hered...

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Detalles Bibliográficos
Autores principales: Bozsik, Anikó, Papp, János, Grolmusz, Vince Kornél, Patócs, Attila, Oláh, Edit, Butz, Henriett
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Cancer Association 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582465/
https://www.ncbi.nlm.nih.gov/pubmed/35167739
http://dx.doi.org/10.4143/crt.2021.1078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582465/
https://www.ncbi.nlm.nih.gov/pubmed/35167739
http://dx.doi.org/10.4143/crt.2021.1078

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