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Genetics of Retinoblastoma 

Genetics of Retinoblastoma
Chapter:
Genetics of Retinoblastoma
Author(s):

Emily Edelman

, Rubens N. Belfort

, Evelyn X. Fu

, and Arun D. Singh

DOI:
10.1093/med/9780195326147.003.0049
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date: 28 March 2020

This chapter begins with an introduction to retinoblastoma, which covers incidence, presenting features, diagnosis and differential diagnosis, inheritance patterns, clinical classification and relationship to inheritance, treatment, classification, trials, and survival. The RB1 gene is then discussed at length, before hereditary retinoblastoma is explored, including clinical features, the 13q deletion syndrome, pineal tumors, retinocytoma, low-penetrance retinoblastoma, and second malignant neoplasms. Finally, the chapter covers genetic testing (indications and techniques), and genetic counseling.

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