Article
Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.
Proceedings of the National Academy of Sciences of the United States of America - 28 Oct 1997
Otterson G A, Chen W d, Coxon A B, Khleif S N, Kaye F J
Abstract excerpt
To study the molecular basis for the clinical phenotype of incomplete penetrance of familial retinoblastoma, we have examined the functional properties of three RB mutations identified in the germ line of five different families with low penetrance. RB mutants isolated from common adult cancers a...
Topics
- Carrier Proteins
- Cell Compartmentation
- Cell Cycle Proteins
- DNA-Binding Proteins
- E2F Transcription Factors
- E2F1 Transcription Factor
- Heterozygote
- Homozygote
- Humans
- Mutation
- Pedigree
- Penetrance
- Phosphorylation
- Protein Binding
- Retinoblastoma
- Retinoblastoma Protein
- Retinoblastoma-Binding Protein 1
- Transcription Factor DP1