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.

Keywords

RetinoblastomaGeneticsBiologyGermlineLocus (genetics)AlleleGermline mutationGeneChromosomeMutationGenetic predisposition

Affiliated Institutions

Related Publications

Publication Info

Year
1985
Type
article
Volume
228
Issue
4698
Pages
501-503
Citations
359
Access
Closed

External Links

View on DOI.org

Social Impact

Altmetric
PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

359
OpenAlex

Cite This

Webster K. Cavenee, Marc F. Hansen, Magnus Nordenskjöld et al. (1985). Genetic Origin of Mutations Predisposing to Retinoblastoma. Science , 228 (4698) , 501-503. https://doi.org/10.1126/science.3983638

Identifiers

DOI
10.1126/science.3983638