{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Fierheller CT"],"funding":["Scholarship Award from The Ministry of Education, Saudi Arabia","FRQS and Quebec Breast Cancer Foundation","the NIHR Cambridge Biomedical Research Centre","Fonds de recherche du Québec, McGill University","National Institute for Health Research (NIHR)","Cancer Research Society and Ovarian Cancer Canada partnership","Canadian Institutes of Health Research","CIHR"],"pagination":["277"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9956348"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(2)"],"pubmed_abstract":["<i>FANCI</i> was recently identified as a new candidate ovarian cancer (OC)-predisposing gene from the genetic analysis of carriers of <i>FANCI</i> c.1813C>T; p.L605F in OC families. Here, we aimed to investigate the molecular genetic characteristics of <i>FANCI,</i> as they have not been described in the context of cancer. We first investigated the germline genetic landscape of two sisters with OC from the discovery <i>FANCI</i> c.1813C>T; p.L605F family (F1528) to re-affirm the plausibility of this candidate. As we did not find other conclusive candidates, we then performed a candidate gene approach to identify other candidate variants in genes involved in the FANCI protein interactome in OC families negative for pathogenic variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>BRIP1</i>, <i>RAD51C<"],"journal":["Genes"],"pubmed_title":["Molecular Genetic Characteristics of <i>FANCI</i>, a Proposed New Ovarian Cancer Predisposing Gene."],"pmcid":["PMC9956348"],"funding_grant_id":["PCC-156736","MOP-115071","21123","PJT-152989","PJT-156124","BRC-1215-20014"],"pubmed_authors":["Bruce JP","Bouchard L","Mes-Masson AM","Tonin PN","Fierheller CT","Pugh TJ","Tischkowitz M","Amuzu S","El Haffaf Z","Bedard K","Ragoussis J","Subramanian DN","Campbell IG","Serruya C","Fewings E","Revil T","Foulkes WD","Greenwood CMT","Provencher D","Prokopec S","Alenezi WM"],"additional_accession":[]},"is_claimable":false,"name":"Molecular Genetic Characteristics of <i>FANCI</i>, a Proposed New Ovarian Cancer Predisposing Gene.","description":"<i>FANCI</i> was recently identified as a new candidate ovarian cancer (OC)-predisposing gene from the genetic analysis of carriers of <i>FANCI</i> c.1813C>T; p.L605F in OC families. Here, we aimed to investigate the molecular genetic characteristics of <i>FANCI,</i> as they have not been described in the context of cancer. We first investigated the germline genetic landscape of two sisters with OC from the discovery <i>FANCI</i> c.1813C>T; p.L605F family (F1528) to re-affirm the plausibility of this candidate. As we did not find other conclusive candidates, we then performed a candidate gene approach to identify other candidate variants in genes involved in the FANCI protein interactome in OC families negative for pathogenic variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>BRIP1</i>, <i>RAD51C<","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-04-07T13:23:55.039Z","creation":"2025-04-05T20:45:47.157Z"},"accession":"S-EPMC9956348","cross_references":{"pubmed":["36833203"],"doi":["10.3390/genes14020277"]}}