ArticleMolecular genetics & genomic medicine2019
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Article
- Non-RB1 germline cancer predisposing variants found in retinoblastoma patients.Genetics in medicine open · 2024Article
- Hsa_circRNA_0040462: a sensor of cells' response to CAP treatment with double-edged roles on breast cancer malignancy.International journal of medical sciences · 2022Article
- NovelDiagnostics (Basel, Switzerland) · 2020Article
- High levels of global genome methylation in patients with retinoblastoma.Oncology letters · 2020Article
- Genetic Predisposition to Solid Pediatric Cancers.Frontiers in oncology · 2020Review
- Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRetinoblastoma (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.
methodsHere, we report the mutation status of 4813 clinically significant genes in six patients with noncarrier of RB1 gene mutation and having normal RB1 promoter methylation from three families having higher risk for developing Rb in the study.
resultsA total of 27 variants were detected in the study. Heterozygous missense variants c.1162G > A (p.Gly388Arg) in the FGFR4 gene; c.559C > T (p.Pro187Ser) in the NQO1 gene were identified. The family based evaluation of the variants showed that the variant, c.714T > G (p.Tyr238Ter), in the CLEC7A gene in first family; the variant, c.55C > T (p.Arg19Ter), in the APOC3 gene and the variant, c.1171C > T (p.Gln391Ter), in the MUTYH gene in second family; and the variant, c.211G > A (p.Gly71Arg), in the UGT1A1 gene in the third family, were found statistically significant (p < 0.05).
conclusionThis study might be an important report on emphazing the mutational status of other genes in patients without RB1 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.
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