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Science 26 April 1985:
Vol. 228. no. 4698, pp. 501 - 503
DOI: 10.1126/science.3983638
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Articles

Science, Vol 228, Issue 4698, 501-503
Copyright © 1985 by American Association for the Advancement of Science

articles

Genetic origin of mutations predisposing to retinoblastoma

WK Cavenee, MF Hansen, M Nordenskjold, E Kock, I Maumenee, JA Squire, RA Phillips, and BL Gallie

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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