ArticleAmerican journal of human genetics1998
Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.
Article in American journal of human genetics, 1998. 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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Who cites it
43 citing papers in PubMed, 207 citations in OpenAlex.
- Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.BMC cancer · 2026Article
- Constitutional Epimutations: From Rare Events Toward Major Cancer Risk Factors?JCO precision oncology · 2025Review
- A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic.Familial cancer · 2024Article
- Retinoblastoma: An update on genetic origin, classification, conventional to next-generation treatment strategies.Heliyon · 2024Review
- Ophthalmic genetic counselling: emerging trends in practice perspectives in Asia.Journal of community genetics · 2023Article
- Retinoblastoma in twins: Risk assessment of genotypic variants.Indian journal of ophthalmology · 2021Article
- Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma.Cancers · 2021Article
- Simultaneous identification of clinically relevantOphthalmic genetics · 2020Article
- Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features.Ophthalmology · 2020Article
- TheGenes · 2019Review
- Constitutional Mosaic Epimutations - a hidden cause of cancer?Cell stress · 2019Review
- Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell DeathTurkish journal of haematology : official journal of Turkish Society of Haematology · 2018Article
- Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.European journal of human genetics : EJHG · 2018Article
- Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.Neuromuscular disorders : NMD · 2017Article
- HSP and deafness: Neurocristopathy caused by a novel mosaicNeurology. Genetics · 2017Article
- Mosaicism and prenatal diagnosis options: insights from retinoblastoma.European journal of human genetics : EJHG · 2017Article
- Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.PloS one · 2017Article
- A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.The Journal of molecular diagnostics : JMD · 2016Article
- A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.PLoS genetics · 2016Article
- Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.European journal of human genetics : EJHG · 2015Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
Although mosaicism can have important implications for genetic counseling of families with hereditary disorders, information regarding the incidence of mosaicism is available for only a few genetic diseases. Here we describe an evaluation of 156 families with retinoblastoma; the initial oncogenic mutation in the retinoblastoma gene had been identified in these families. In 15 ( approximately 10%) families, we were able to document mosaicism for the initial mutation in the retinoblastoma gene, either in the proband or in one of the proband's parents. The true incidence of mosaicism in this group of 156 families is probably higher than our findings indicate; in some additional families beyond the 15 we identified, mosaicism was likely but could not be proven, because somatic or germ-line DNA from key family members was unavailable. Germ-line DNA from two mosaic fathers was analyzed: in one of these, the mutation was detected in both sperm and leukocyte DNA; in the other, the mutation was detected only in sperm DNA. Our data suggest that mosaicism is more common than is generally appreciated, especially in disorders such as retinoblastoma, in which a high proportion of cases represent new mutations. The possibility of mosaicism should always be considered during the genetic counseling of newly identified families with retinoblastoma. As demonstrated here, genetic tests of germ-line DNA can provide valuable information that is not available through analysis of somatic (leukocyte) DNA.
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