ArticleAmerican journal of human genetics2003
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 2 of them syntheses that pooled it.
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Who cites it
102 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2014Guideline
- RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.BMC genetics · 2005Pooled it
- Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Establishment and rescue of fibroblast cell lines carrying a nonsense mutation of RB1 by CRISPR-based base editing.Scientific reports · 2025Article
- Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.Cancer medicine · 2025Article
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation.Genes & cancer · 2025Article
- Case Report: A novel germline donor splicing site mutation ofFrontiers in oncology · 2025Article
- Mutational analysis of theFrontiers in medicine · 2024Article
- Retinoblastoma: present scenario and future challenges.Cell communication and signaling : CCS · 2023Review
- Danish heritable retinoblastoma survivors' perspectives on reproductive choices: "It's important for me, not to pass on this condition".Journal of genetic counseling · 2023Article
- Epidemiological aspect of retinoblastoma in the world: a review of recent advance studies.International journal of ophthalmology · 2023Review
- Prenatal Diagnosis of Retinoblastomas: A Scoping Review.International journal of general medicine · 2023Article
- Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.Annals of oncology : official journal of the European Society for Medical Oncology · 2022Review
- Review
- Unilateral retinoblastoma; natural history and an age-based protocol in 248 patients.Eye (London, England) · 2021Article
- Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.Molecular and clinical oncology · 2021Article
- Genetic syndromes predisposing to pediatric brain tumors.Neuro-oncology practice · 2021Review
- Retinoblastoma in twins: Risk assessment of genotypic variants.Indian journal of ophthalmology · 2021Article
- Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.Acta neuropathologica communications · 2021Article
42 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Timely molecular diagnosis of RB1 mutations enables earlier treatment, lower risk, and better health outcomes for patients with retinoblastoma; empowers families to make informed family-planning decisions; and costs less than conventional surveillance. However, complexity has hindered clinical implementation of molecular diagnosis. The majority of RB1 mutations are unique and distributed throughout the RB1 gene, with no real hot spots. We devised a sensitive and efficient strategy to identify RB1 mutations that combines quantitative multiplex polymerase chain reaction (QM-PCR), double-exon sequencing, and promoter-targeted methylation-sensitive PCR. Optimization of test order by stochastic dynamic programming and the development of allele-specific PCR for four recurrent point mutations decreased the estimated turnaround time to <3 wk and decreased direct costs by one-third. The multistep method reported here detected 89% (199/224) of mutations in bilaterally affected probands and both mutant alleles in 84% (112/134) of tumors from unilaterally affected probands. For 23 of 27 exons and the promoter region, QM-PCR was a highly accurate measure of deletions and insertions (accuracy 95%). By revealing those family members who did not carry the mutation found in the related proband, molecular analysis enabled 97 at-risk children from 20 representative families to avoid 313 surveillance examinations under anesthetic and 852 clinic visits. The average savings in direct costs from clinical examinations avoided by children in these families substantially exceeded the cost of molecular testing. Moreover, health care savings continue to accrue, as children in succeeding generations avoid unnecessary repeated anaesthetics and examinations.
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