Abstract
The RB1 gene is the first described human tumor suppressor gene and plays an integral role in the development of retinoblastoma, a pediatric malignancy of the eye. Since its discovery, the stepwise characterization and cloning of RB1 have laid the foundation for numerous advances in the understanding of tumor suppressor genes, retinoblastoma tumorigenesis, and inheritance. Knowledge of RB1 led to a paradigm shift in the field of cancer genetics, including widespread acceptance of the concept of tumor suppressor genes, and has provided crucial diagnostic and prognostic information through genetic testing for patients affected by retinoblastoma. This article reviews the long history of RB1 gene research, characterization, and cloning, and also discusses recent advances in retinoblastoma genetics that have grown out of this foundational work.
Highlights
While it is often said in medical school that half of what you learn will be outdated and disproven by the end of medical school, a true paradigm shift in medicine is rare
Hansen et al (1985) and Dryja et al (1986) subsequently demonstrated that osteosarcoma—one of the common second primary cancers to affect patients who carry a pathogenic variant in RB1— showed somatic loss of heterozygosity in the region of chromosome 13 that contains the RB1 locus in patients both with and without retinoblastoma
Retinoblastoma and the RB1 tumor suppressor gene led to a paradigm shift in cancer genetics in the late 1980s and early 1990s, with increased acceptance and understanding of the concept and molecular function of tumor suppressor genes [30]
Summary
While it is often said in medical school that half of what you learn will be outdated and disproven by the end of medical school, a true paradigm shift in medicine is rare. One such shift has been the understanding of the tumor suppressor gene in cancer genetics and the role these gatekeeper genes play in many human cancers. Since the discovery and cloning of this gene decades ago, numerous studies of retinoblastoma and related non-ocular tumors have elucidated the molecular and genetic role of RB1 in cancer development and inheritance. We review the concepts, cloning, characterization and application of the RB1 retinoblastoma tumor suppressor gene
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