Molecular Genetics of Retinoblastoma

TL;DRAbstract

Retinoblastoma is a potentially hereditary cancer. Refinement of the genetic and epidemiological analysis of the disease has uncovered two distinct classes of retinoblastoma. Sporadic retinoblastoma is generally unilateral and unifocal, and is diagnosed at the late age of about two years. A few of these sporadic cases are probably due to a germ cell mutation inherited from a parent and hence can be classified as hereditary. Familial retinoblastoma is generally diagnosed at an earlier age, at 11 months, and is typically bilateral and/or multifocal. These observations have been incorporated into a 'two hit' mutational inactivation hypothesis of the origin of retinoblastoma. The molecular cloning and characterization of a candidate retinoblastoma susceptibility gene and its gene product has allowed a critical testing of this hypothesis. All of the predications of the model have been confirmed by experiment. These include inheritance of one mutated retinoblastoma susceptibility (RB) allele

Chat with Paper

AI Agents for this Paper