<HashMap><database>biostudies-literature</database><scores/><additional><submitter>Fierheller CT</submitter><funding>Scholarship Award from The Ministry of Education, Saudi Arabia</funding><funding>FRQS and Quebec Breast Cancer Foundation</funding><funding>the NIHR Cambridge Biomedical Research Centre</funding><funding>Fonds de recherche du Québec, McGill University</funding><funding>National Institute for Health Research (NIHR)</funding><funding>Cancer Research Society and Ovarian Cancer Canada partnership</funding><funding>Canadian Institutes of Health Research</funding><funding>CIHR</funding><pagination>277</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC9956348</full_dataset_link><repository>biostudies-literature</repository><omics_type>Unknown</omics_type><volume>14(2)</volume><pubmed_abstract>&lt;i>FANCI&lt;/i> was recently identified as a new candidate ovarian cancer (OC)-predisposing gene from the genetic analysis of carriers of &lt;i>FANCI&lt;/i> c.1813C>T; p.L605F in OC families. Here, we aimed to investigate the molecular genetic characteristics of &lt;i>FANCI,&lt;/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 &lt;i>FANCI&lt;/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 &lt;i>BRCA1&lt;/i>, &lt;i>BRCA2&lt;/i>, &lt;i>BRIP1&lt;/i>, &lt;i>RAD51C&lt;</pubmed_abstract><journal>Genes</journal><pubmed_title>Molecular Genetic Characteristics of &lt;i>FANCI&lt;/i>, a Proposed New Ovarian Cancer Predisposing Gene.</pubmed_title><pmcid>PMC9956348</pmcid><funding_grant_id>PCC-156736</funding_grant_id><funding_grant_id>MOP-115071</funding_grant_id><funding_grant_id>21123</funding_grant_id><funding_grant_id>PJT-152989</funding_grant_id><funding_grant_id>PJT-156124</funding_grant_id><funding_grant_id>BRC-1215-20014</funding_grant_id><pubmed_authors>Bruce JP</pubmed_authors><pubmed_authors>Bouchard L</pubmed_authors><pubmed_authors>Mes-Masson AM</pubmed_authors><pubmed_authors>Tonin PN</pubmed_authors><pubmed_authors>Fierheller CT</pubmed_authors><pubmed_authors>Pugh TJ</pubmed_authors><pubmed_authors>Tischkowitz M</pubmed_authors><pubmed_authors>Amuzu S</pubmed_authors><pubmed_authors>El Haffaf Z</pubmed_authors><pubmed_authors>Bedard K</pubmed_authors><pubmed_authors>Ragoussis J</pubmed_authors><pubmed_authors>Subramanian DN</pubmed_authors><pubmed_authors>Campbell IG</pubmed_authors><pubmed_authors>Serruya C</pubmed_authors><pubmed_authors>Fewings E</pubmed_authors><pubmed_authors>Revil T</pubmed_authors><pubmed_authors>Foulkes WD</pubmed_authors><pubmed_authors>Greenwood CMT</pubmed_authors><pubmed_authors>Provencher D</pubmed_authors><pubmed_authors>Prokopec S</pubmed_authors><pubmed_authors>Alenezi WM</pubmed_authors></additional><is_claimable>false</is_claimable><name>Molecular Genetic Characteristics of &lt;i>FANCI&lt;/i>, a Proposed New Ovarian Cancer Predisposing Gene.</name><description>&lt;i>FANCI&lt;/i> was recently identified as a new candidate ovarian cancer (OC)-predisposing gene from the genetic analysis of carriers of &lt;i>FANCI&lt;/i> c.1813C>T; p.L605F in OC families. Here, we aimed to investigate the molecular genetic characteristics of &lt;i>FANCI,&lt;/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 &lt;i>FANCI&lt;/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 &lt;i>BRCA1&lt;/i>, &lt;i>BRCA2&lt;/i>, &lt;i>BRIP1&lt;/i>, &lt;i>RAD51C&lt;</description><dates><release>2023-01-01T00:00:00Z</release><publication>2023 Jan</publication><modification>2026-04-07T13:23:55.039Z</modification><creation>2025-04-05T20:45:47.157Z</creation></dates><accession>S-EPMC9956348</accession><cross_references><pubmed>36833203</pubmed><doi>10.3390/genes14020277</doi></cross_references></HashMap>