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

<b>Background:</b> 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 clinical...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Wejdan M. Alenezi, Caitlin T. Fierheller, Timothée Revil, Corinne Serruya, Anne-Marie Mes-Masson, William D. Foulkes, Diane Provencher, Zaki El Haffaf, Jiannis Ragoussis, Patricia N. Tonin
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI AG 2022-04-01
Saila:Genes
Gaiak:
familial ovarian cancer
whole exome sequencing
<i>BRCA1</i>
germline variant
intronic variant
alternative splicing variant
Sarrera elektronikoa:https://www.mdpi.com/2073-4425/13/4/697
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