Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants

Background: Detecting pathogenic intronic variants resulting in aberrant splicing remains a challenge in routine genetic testing. We describe germline whole-exome sequencing (WES) analyses and apply in silico predictive tools of familial ovarian cancer (OC) cases reported clinically negative for pat...

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Detalles Bibliográficos
Autores principales: Alenezi, Wejdan M., Fierheller, Caitlin T., Revil, Timothée, Serruya, Corinne, Mes-Masson, Anne-Marie, Foulkes, William D., Provencher, Diane, El Haffaf, Zaki, Ragoussis, Jiannis, Tonin, Patricia N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032308/
https://www.ncbi.nlm.nih.gov/pubmed/35456503
http://dx.doi.org/10.3390/genes13040697

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