Genetic origin of mutations predisposing to retinoblastoma

Webster K. Cavenee, Marc F. Hansen, Magnus Nordenskjold, Eric Kock, Irene Maumenee, Jeremy A. Squire, Robert A. Phillips, Brenda L. Gallie

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)501-503
Number of pages3
JournalScience
Volume228
Issue number4698
DOIs
StatePublished - Jan 1 1985

ASJC Scopus subject areas

  • General

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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, 228(4698), 501-503. https://doi.org/10.1126/science.3983638