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The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene

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USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA
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The Vision Center at Children’s Hospital Los Angeles, Los Angeles, CA 90027, USA
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Ludwig Institute for Cancer Research, University of California, San Diego, CA 92093, USA
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Department of Medicine, UCSD School of Medicine, San Diego, CA 92093, USA
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Moores Cancer Center, UCSD School of Medicine, San Diego, CA 92093, USA
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Cogan Eye Pathology Laboratory, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
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Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada
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Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5T 3A9, Canada
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Departments of Molecular Genetics and Medical Biophysics, University of Toronto, Toronto, ON M5T 3A9, Canada
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Author to whom correspondence should be addressed.
Genes 2019, 10(11), 879; https://doi.org/10.3390/genes10110879
Received: 9 October 2019 / Revised: 24 October 2019 / Accepted: 30 October 2019 / Published: 1 November 2019
(This article belongs to the Special Issue Recent Advances in Inherited Eye Disease)
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. View Full-Text
Keywords: retinoblastoma; tumor suppressor gene; cancer genetics; gene cloning; genetic testing retinoblastoma; tumor suppressor gene; cancer genetics; gene cloning; genetic testing
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Berry, J.L.; Polski, A.; Cavenee, W.K.; Dryja, T.P.; Murphree, A.L.; Gallie, B.L. The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene. Genes 2019, 10, 879.

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