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Retinoblastoma Genes in Chinese Studies

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Advances in Vision Research, Volume II

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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Abstract

Retinoblastoma is the commonest pediatric intraocular malignancy across most ethnic populations. Its genetic basis follows a two-hit model, in which two events are needed to inactivate both alleles of the disease-causative gene, RB1. Loss of heterozygosity (LOH) is a major driving force to inactivate the whole RB1 gene. Epigenetic modifications such as DNA methylation involving different genes and microRNA (miRNA) expressions also play important roles in retinoblastoma tumorigenesis. Functionally, as RB1 is important in maintaining chromosomal stability and cell cycle progression, loss of its function would underlie aberrations in other chromosomal regions. In addition, genes other than RB1 have been identified as direct or indirect causes of retinoblastoma tumorigenesis. In this chapter, we review the major genetic studies of retinoblastoma that have been conducted in Chinese. Contrasts with other ethnic groups will be made. These studies help us to understand the mechanisms of inactivating RB1, its functional consequences, and maintaining genome stability. Evidences have also been obtained on epigenetic contribution to retinoblastoma, especially by DNA repair genes. On the basis of the genetic and epigenetic findings, development of potential alternative therapy for retinoblastoma will be discussed, together with key issues in attempts of awareness campaign for early detection and genetic counselling.

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Compliance with Ethical Requirements

Bi Ning Zhang, Yuning Jiang, Wai Kit Chu, Winnie W.Y. Lau, Simon T.C. Ko, Kwong Wai Choy, Calvin C.P. Pang, Guy L.J. Chen, and Jason C.S. Yam declare that they have no conflict of interest.

No human or animal studies were performed by the authors for this article.

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Authors and Affiliations

  1. Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Kowloon/Hong Kong, China

    Bi Ning Zhang, Yuning Jiang, Wai Kit Chu, Calvin C. P. Pang, Guy L. J. Chen & Jason C. S. Yam

  2. Hong Kong Eye Hospital, Hong Kong, China

    Winnie W. Y. Lau

  3. Department of Ophthalmology, Tung Wah East Hospital, Hong Kong, China

    Simon T. C. Ko

  4. Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China

    Kwong Wai Choy

  5. Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China

    Guy L. J. Chen

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  1. Bi Ning Zhang
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Correspondence to Jason C. S. Yam .

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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs Tokyo Medical Center, National Hospital Organization, Tokyo, Japan

    Takeshi Iwata

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Zhang, B.N. et al. (2019). Retinoblastoma Genes in Chinese Studies. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume II. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-13-0884-0_24

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  • DOI: https://doi.org/10.1007/978-981-13-0884-0_24

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