{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T09:16:20Z","timestamp":1781082980414,"version":"3.54.1"},"reference-count":48,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T00:00:00Z","timestamp":1560729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004006","name":"Bilimsel Ara\u015ftirma Projeleri Birimi, Istanbul \u00dcniversitesi","doi-asserted-by":"publisher","award":["Project number: 21460"],"award-info":[{"award-number":["Project number: 21460"]}],"id":[{"id":"10.13039\/501100004006","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Retinoblastoma (Rb) is the most prevalent intraocular pediatric malignancy of the retina. Significant genetic factors are known to have a role in the development of Rb.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, we report the mutation status of 4813 clinically significant genes in six patients with noncarrier of <jats:italic>RB1<\/jats:italic> gene mutation and having normal <jats:italic>RB1<\/jats:italic> promoter methylation from three families having higher risk for developing Rb in the study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 27 variants were detected in the study. Heterozygous missense variants c.1162G\u00a0&gt;\u00a0A (p.Gly388Arg) in the <jats:italic>FGFR4<\/jats:italic> gene; c.559C\u00a0&gt;\u00a0T (p.Pro187Ser) in the <jats:italic>NQO1<\/jats:italic> gene were identified. The family based evaluation of the variants showed that the variant, c.714T\u00a0&gt;\u00a0G (p.Tyr238Ter), in the <jats:italic>CLEC7A<\/jats:italic> gene in first family; the variant, c.55C\u00a0&gt;\u00a0T (p.Arg19Ter), in the <jats:italic>APOC3<\/jats:italic> gene and the variant, c.1171C\u00a0&gt;\u00a0T (p.Gln391Ter), in the <jats:italic>MUTYH<\/jats:italic> gene in second family; and the variant, c.211G\u00a0&gt;\u00a0A (p.Gly71Arg), in the <jats:italic>UGT1A1<\/jats:italic> gene in the third family, were found statistically significant (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.05).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study might be an important report on emphazing the mutational status of other genes in patients without <jats:italic>RB1<\/jats:italic> gene mutations and having high risk for developing Rb. The study also indicates the interaction between the retinoic acid pathway and Rb oncogenesis for the first time.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.785","type":"journal-article","created":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T17:14:08Z","timestamp":1560791648000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Investigation of new candidate genes in retinoblastoma using the TruSight One \u201cclinical exome\u201d gene panel"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2271-8481","authenticated-orcid":false,"given":"Demet","family":"Akdeniz","sequence":"first","affiliation":[{"name":"Division of Cancer Genetics, Department of Basic Oncology, Oncology Institute Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8023-3223","authenticated-orcid":false,"given":"Seref 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