Abstract
Retinoblastoma was the first cancer to be described as a genetic disease. The progression of a normal retinal cell to the eventual malignant tumor involves a step-wise accumulation of molecular genetic alterations, which correlate with clinical stage and pathology of the tumor. This chapter gives an overview of the current state of knowledge of retinoblastoma genetics and its implications for genetic counseling.
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Glossary
- Bilateral retinoblastoma
-
retinoblastoma that affects both eyes.
- de novo germline mutation
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new mutation, arising sporadically in a germ cell of the proband’s parent or in early stages of embryogenesis of the proband.
- Expressivity
-
the phenotypic heterogeneity in the presentation of the disease.
- Familial retinoblastoma
-
the RB1 allele that resulted in retinoblastoma was transmitted from a parent; children with familial retinoblastoma are constitutionally heterozygous for RB1 mutant alleles.
- Heritable retinoblastoma
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offspring of probands with heritable retinoblastoma are at 50% risk to inherit the mutant allele.
- Isolated or sporadic retinoblastoma
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no family history of retinoblastoma; may or may not have a constitutional RB1 mutant allele.
- Mosaic
-
the RB1 mutation occurred early in development, affecting only a subset of constitutional cells.
- Multifocal retinoblastoma
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two or more retinoblastoma tumors affecting one eye.
- Penetrance
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the frequency at which a genotype (mutation) is expressed at the phenotypic level.
- Proband
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the first patient in a family to be diagnosed with retinoblastoma.
- Trilateral retinoblastoma
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retinoblastoma develops in both eyes (or only one eye) in addition to pinealoblastoma or a primitive neuroectodermal brain tumor.
- Unifocal retinoblastoma
-
a single retinoblastoma tumor in one eye.
- Unilateral retinoblastoma
-
retinoblastoma that affects one eye.
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Dimaras, H., Gallie, B.L. (2010). Genetics of Retinoblastoma and Genetic Counseling. In: Rodriguez-Galindo, C., Wilson, M. (eds) Retinoblastoma. Pediatric Oncology. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-89072-2_4
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DOI: https://doi.org/10.1007/978-0-387-89072-2_4
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