ArticleMolecular vision2021
Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.
Article in Molecular vision, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Comprehensive analysis of clinical phenotype and genetic characteristics of retinoblastoma caused byAmerican journal of cancer research · 2025Article
- Clinical and genetic characteristics of retinoblastoma patients in a single center with four novelInternational journal of ophthalmology · 2023Article
- Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.International ophthalmology · 2022Article
- 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
- The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.Risk management and healthcare policy · 2021Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Retinoblastoma (RB) is a pediatric ocular malignancy due to biallelic inactivation of the Methods: Blood samples were collected from 149 unrelated probands with retinoblastoma (62 bilaterally and 87 unilaterally) and their parent(s). Genomic DNA was analyzed with custom panel-based targeted NGS, and the panel was designed to include exons 1-27 of the Results: Overall, 74 germline mutations were detected in 48.3% of the probands (72/149, 56 bilateral and 16 unilateral cases). The total detection rate in the bilateral cases was 90.3% (56/62). These mutations included 64 SNVs and InDels (25 nonsense, 20 splicing, ten frameshift, eight missense, and one synonymous variants) and ten CNVs. All CNVs were confirmed with MLPA. Twenty-four (32.4%, 24/74) variants detected were novel, including nine splicing, six frameshift, five missense, and four nonsense variants. Eight LFVs (10.8%, 8/74) were found with targeted NGS; six of which were identified with Sanger sequencing, and two were identified with PCR-based deep NGS (13.16% and 3.000% mutant rates, respectively). Conclusions: This study expanded the spectrum of germline mutations in
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Identifiers
33456302PMC7803294W3121350420What OpenQuestion holds
Registered trials
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