Article
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.
Genes - 15 Apr 2022
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
Abstract excerpt
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 pathogenic BRCA1 and BRCA2 variants. Methods: WES data from 27 familial OC cases reported clinically negative for...
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