The DOI matches its Crossref record.
Genetic Origin of Mutations Predisposing to Retinoblastoma
Abstract
Retinoblastoma is one of several human tumors to which predisposition can be inherited. Molecular genetic analysis of several nonheritable cases has led to the hypothesis that this tumor develops after the occurrence of specific mitotic events involving human chromosome 13. These events reveal initial predisposing recessive mutations. Evidence is presented that similar chromosomal events occur in tumors from heritable cases. The chromosome 13 found in the tumors was the one carrying the predisposing germline mutation and not the homolog containing the wild-type allele at the Rb-1 locus. These results suggest a new approach for identifying recessive mutant genes that lead to cancer and a conceptual basis for accurate prenatal predictions of cancer predisposition.
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Cited by
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Metadata
- Authors
- Cavenee, W. K., Hansen, M. F., Nordenskjold, M., Kock, E., Maumenee, I., Squire, J. A., Phillips, R. A., & Gallie, B. L.
- Venue
- Science
- Published
- 1985-04-26
- Volume
- 228
- Issue
- 4698
- Pages
- 501-503
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1995822744
- Cited by
- 359
- References
- 0
- FWCI
- 41.55
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Genetic Origin of Mutations Predisposing to Retinoblastoma. https://app.cochat.ai/papers/10.1126/science.3983638
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- Cavenee, W. K., Hansen, M. F., Nordenskjold, M., Kock, E., Maumenee, I., Squire, J. A., Phillips, R. A., & Gallie, B. L. (1985). Genetic Origin of Mutations Predisposing to Retinoblastoma. Science. https://doi.org/10.1126/science.3983638
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
