Browsing Awaiting Allocation by Author "Fierheller, CT"
Now showing items 1-8 of 8
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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 ... -
The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families
Fierheller, CT; Alenezi, WM; Tonin, PN (MDPI, 2021-07-07)The French Canadian population of the province of Quebec has been recognized for its contribution to research in medical genetics, especially in defining the role of heritable pathogenic variants in cancer predisposing ... -
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 ... -
Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
Alenezi, WM; Fierheller, CT; Recio, N; Tonin, PN (2020-07-27)Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that not all hereditary breast and/or ovarian cancer syndrome families were explained by germline variants in these cancer predisposing ... -
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 ...