ArticleHuman mutation2014
Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 100 citations in OpenAlex.
- Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.BMC cancer · 2026Article
- Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice.Genes · 2025Review
- PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.Cerebellum (London, England) · 2025Review
- Parental Somatic Mosaicism Detected During Prenatal Diagnosis.Prenatal diagnosis · 2025Article
- Comprehensive analysis of clinical phenotype and genetic characteristics of retinoblastoma caused byAmerican journal of cancer research · 2025Article
- NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology.NPJ precision oncology · 2023Article
- Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism inGenes · 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
- Article
- 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
- Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021Review
- Article
- Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.Molecular vision · 2021Article
- Incidence and Mortality of Second Primary Cancers in Danish Patients With Retinoblastoma, 1943-2013.JAMA network open · 2020Article
- Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features.Ophthalmology · 2020Article
- Genetic Predisposition to Solid Pediatric Cancers.Frontiers in oncology · 2020Review
- Review
- Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.BMC cancer · 2018Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Sporadic retinoblastoma (RB) is caused by de novo mutations in the RB1 gene. Often, these mutations are present as mosaic mutations that cannot be detected by Sanger sequencing. Next-generation deep sequencing allows unambiguous detection of the mosaic mutations in lymphocyte DNA. Deep sequencing of the RB1 gene on lymphocyte DNA from 20 bilateral and 70 unilateral RB cases was performed, where Sanger sequencing excluded the presence of mutations. The individual exons of the RB1 gene from each sample were amplified, pooled, ligated to barcoded adapters, and sequenced using semiconductor sequencing on an Ion Torrent Personal Genome Machine. Six low-level mosaic mutations were identified in bilateral RB and four in unilateral RB cases. The incidence of low-level mosaic mutation was estimated to be 30% and 6%, respectively, in sporadic bilateral and unilateral RB cases, previously classified as mutation negative. The frequency of point mutations detectable in lymphocyte DNA increased from 96% to 97% for bilateral RB and from 13% to 18% for unilateral RB. The use of deep sequencing technology increased the sensitivity of the detection of low-level germline mosaic mutations in the RB1 gene. This finding has significant implications for improved clinical diagnosis, genetic counseling, surveillance, and management of RB.
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