Browsing Awaiting Allocation by Author "Ragoussis, J"
Now showing items 1-6 of 6
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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
Alenezi, WM; Fierheller, CT; Revil, T; Serruya, C; Mes-Masson, A-M; Foulkes, WD; Provencher, D; El Haffaf, Z; Ragoussis, J; Tonin, PN (MDPI, 2022-04-15)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 ... -
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Fierheller, CT; Guitton-Sert, L; Alenezi, WM; Revil, T; Oros, KK; Gao, Y; Bedard, K; Arcand, SL; Serruya, C; Behl, S (BMC, 2021-12-03)BACKGROUND: Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic ... -
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases
Alenezi, WM; Fierheller, CT; Serruya, C; Revil, T; Oros, KK; Subramanian, DN; Bruce, J; Spiegelman, D; Pugh, T; Campbell, IG (Frontiers Media, 2023-03-08)Not all familial ovarian cancer (OC) cases are explained by pathogenic germline variants in known risk genes. A candidate gene approach involving DNA repair pathway genes was applied to identify rare recurring pathogenic ... -
Genetic and molecular analyses of candidate germline BRIP1/FANCJ variants implicated in breast and ovarian cancer
Milano, L; Alenezi, WM; Fierheller, CT; Serruya, C; Revil, T; Oros, KK; Bruce, J; Spiegelman, D; Pugh, T; Masson, A-MM -
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population
Alenezi, WM; Milano, L; Fierheller, CT; Serruya, C; Revil, T; Oros, KK; Behl, S; Arcand, SL; Nayar, P; Spiegelman, D (MDPI, 2022-04-30)To identify candidate variants in RAD51C and RAD51D ovarian cancer (OC) predisposing genes by investigating French Canadians (FC) exhibiting unique genetic architecture. Candidates were identified by whole exome sequencing ... -
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene
Fierheller, CT; Alenezi, WM; Serruya, C; Revil, T; Amuzu, S; Bedard, K; Subramanian, DN; Fewings, E; Bruce, JP; Prokopec, S (MDPI, 2023-01-20)FANCI was recently identified as a new candidate ovarian cancer (OC)-predisposing gene from the genetic analysis of carriers of FANCI c.1813C>T; p.L605F in OC families. Here, we aimed to investigate the molecular genetic ...