ArticleMolecular vision2016
Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.
Article in Molecular vision, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Article
- Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.BMC cancer · 2026Article
- Mutational analysis of theFrontiers in medicine · 2024Article
- Secondary leiomyosarcoma of the nasal cavity in a treated patient with possible hereditary retinoblastoma with germline reciprocal translocation of RB1 and DMXL1 and somatic TP53 mutation: A case report.Molecular and clinical oncology · 2023Article
- Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.Translational vision science & technology · 2022Article
- Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.Molecular and clinical oncology · 2021Article
- Retinoblastoma genetics screening and clinical management.BMC medical genomics · 2021Article
- Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.Molecular vision · 2021Article
- NovelDiagnostics (Basel, Switzerland) · 2020Article
- Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.BMC medical genetics · 2020Article
- A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation.Frontiers in genetics · 2020Review
- Targeted sequencing of theThe Indian journal of medical research · 2019Article
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.Acta ophthalmologica · 2019Article
- Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.Journal of neurology · 2019Article
- 1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum.Molecular syndromology · 2019Article
- Updates in ophthalmic pathology.Indian journal of ophthalmology · 2017Review
- A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.Neuro-oncology advancesArticle
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRetinoblastoma (Rb) is the most common primary intraocular cancer of childhood and one of the major causes of blindness in children. India has the highest number of patients with Rb in the world. Mutations in the RB1 gene are the primary cause of Rb, and heterogeneous mutations are distributed throughout the entire length of the gene. Therefore, genetic testing requires screening of the entire gene, which by conventional sequencing is time consuming and expensive.
methodsIn this study, we screened the RB1 gene in the DNA isolated from blood or saliva samples of 50 unrelated patients with Rb using the TruSight Cancer panel. Next-generation sequencing (NGS) was done on the Illumina MiSeq platform. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform.
resultsWe were able to detect germline pathogenic mutations in 66% (33/50) of the cases, 12 of which were novel. We were able to detect all types of mutations, including missense, nonsense, splice site, indel, and structural variants. When we considered bilateral Rb cases only, the mutation detection rate increased to 100% (22/22). In unilateral Rb cases, the mutation detection rate was 30% (6/20).
conclusionsOur study suggests that NGS-based approaches increase the sensitivity of mutation detection in the RB1 gene, making it fast and cost-effective compared to the conventional tests performed in a reflex-testing mode.
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27582626PMC4985049W2508867077What OpenQuestion holds
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