ArticlePathology oncology research : POR2012
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.
Article in Pathology oncology research : POR, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed, 51 citations in OpenAlex.
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Reversal of dual epigenetic repression of non-canonical Wnt-5a normalises diabetic corneal epithelial wound healing and stem cells.Diabetologia · 2023Article
- Genetics in ophthalmology: molecular blueprints of retinoblastoma.Human genomics · 2023Review
- Retinoblastoma: A review of the molecular basis of tumor development and its clinical correlation in shaping future targeted treatment strategies.Indian journal of ophthalmology · 2023Review
- The Pleiotropy ofInternational journal of molecular sciences · 2022Review
- Identification of Epigenetically Modified Hub Genes and Altered Pathways Associated With Retinoblastoma.Frontiers in cell and developmental biology · 2022Article
- Chromatin regulators in retinoblastoma: Biological roles and therapeutic applications.Journal of cellular physiology · 2021Review
- Clinical, Genomic, and Pharmacological Study ofCancers · 2020Article
- High levels of global genome methylation in patients with retinoblastoma.Oncology letters · 2020Article
- Biomarkers in retinoblastoma.International journal of ophthalmology · 2020Review
- Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.Molecular genetics & genomic medicine · 2019Article
- Prognostic and Predictive Epigenetic Biomarkers in Oncology.Molecular diagnosis & therapy · 2019Review
- A Tox21 Approach to Altered Epigenetic Landscapes: Assessing Epigenetic Toxicity Pathways Leading to Altered Gene Expression and Oncogenic Transformation In Vitro.International journal of molecular sciences · 2017Review
- Epigenetics and Common Ophthalmic Diseases.The Yale journal of biology and medicine · 2016Review
- Epigenetic regulation of human retinoblastoma.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Review
- Multiplexed methylation profiles of tumor suppressor genes and clinical outcome in oligodendroglial tumors.Cancer medicine · 2016Article
- Orchestrating epigenetic roles targeting ocular tumors.OncoTargets and therapy · 2016Review
- Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.Genetics research · 2015Article
- Article
- Retinoic Acid Signaling Regulates Differential Expression of the Tandemly-Duplicated Long Wavelength-Sensitive Cone Opsin Genes in Zebrafish.PLoS genetics · 2015Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinoblastoma is the most common primary intraocular malignancy in children. Two step inactivation of RB1 (M1-M2) represents the key event in the pathogenesis of retinoblastoma but additional genetic and epigenetic events (M3-Mn) are required for tumor development. In the present study, we employed Methylation Specific Multiplex Ligation Probe Assay to investigate methylation status and copy number changes of 25 and 39 oncosuppressor genes, respectively. This technique was applied to analyse 12 retinoblastomas (5 bilateral and 7 unilateral) and results were compared to corresponding normal retina. We identified hypermethylation in seven new genes: MSH6 (50%), CD44 (42%), PAX5 (42%), GATA5 (25%), TP53 (8%), VHL (8%) and GSTP1 (8%) and we confirmed the previously reported hypermethylation of MGMT (58%), RB1 (17%) and CDKN2 (8%). These genes belong to key pathways including DNA repair, pRB and p53 signalling, transcriptional regulation, protein degradation, cell-cell interaction, cellular adhesion and migration. In the same group of retinoblastomas, a total of 29 copy number changes (19 duplications and 10 deletions) have been identified. Interestingly, we found deletions of the following oncosuppressor genes that might contribute to drive retinoblastoma tumorigenesis: TP53, CDH13, GATA5, CHFR, TP73 and IGSF4. The present data highlight the importance of epigenetic changes in retinoblastoma and indicate seven hypermethylated oncosuppressors never associated before to retinoblastoma pathogenesis. This study also confirms the presence of copy number variations in retinoblastoma, expecially in unilateral cases (mean 3 ± 1.3) where these changes were found more frequently respect to bilateral cases (mean 1.4 ± 1.1).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.