Browsing Awaiting Allocation by Subject "Genetic Predisposition to Disease"
Now showing items 1-4 of 4
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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
(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
(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 ... -
Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
(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
(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 ...