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Figure 1: Retinoblastoma genetics overview. In a population of 100 people with a retinoblastoma phenotype or genotype, we expect 1 unaffected (no eye tumor), 40 bilateral, and 59 unilateral cases. Of these, the unaffected and bilateral cases will have heritable retinoblastoma, with an RB1 mutation detectable in blood. We expect 7 unilateral cases to also carry an RB1 mutation in the blood while 51 will be nonheritable somatic cases where both RB1 mutations have occurred in the tumor alone. We expect 1 nonheritable unilateral case to have a normal RB1 gene in blood and tumor, the retinoblastoma having been initiated by amplification of the MYCN gene. The genetic testing strategy for each category is described |
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