Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

@article{Onadim1992OncogenicPM,
  title={Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.},
  author={Z O Onadim and Annette Hogg and Paul N Baird and John K Cowell},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1992},
  volume={89 13},
  pages={6177-81}
}
The retinoblastoma-predisposition gene, RB1, segregates as an autosomal dominant trait with high (90%) penetrance. Certain families, however, show an unusual low-penetrance phenotype with many individuals being unaffected, unilaterally affected, or with evidence of spontaneously regressed tumors. We have used single-strand conformation polymorphism analysis and PCR sequencing to study two such families. Mutations were found in exon 20 of RB1 in both cases. In one family a C----T transition in… CONTINUE READING
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