Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.

ABSTRACT: The tumor-suppressor activity of the retinoblastoma protein (RB) is encoded within a protein-binding ("pocket") domain that is targeted for mutations in all cases of familial retinoblastoma and in many common adult cancers. Although familial retinoblastoma is a paradigm for a highly penetrant, recessive model of tumorigenesis, the molecular basis for the phenotype of incomplete penetrance of familial retinoblastoma is undefined. We studied the RB pocket-binding properties of three independent, mutant RB alleles that are present in the germline of 12 kindreds with the phenotype of incomplete penetrance of familial retinoblastoma. Each arises from alterations of single codons within the RB pocket domain (designated "delta 480," "661W," or "712R"). Under the same conditions, we studied the pr

SUBMITTER: Otterson GA 

PROVIDER: S-EPMC1288236 | biostudies-literature | 1999 Oct

REPOSITORIES: biostudies-literature