retinoblastoma
Quick Summary
Retinoblastoma is a malignant tumor of the retina that develops in childhood. It originates from retinal germ cells and is linked to a chromosomal abnormality.1
The RB gene is a tumor suppressor gene associated with retinoblastoma. Tumor suppressor genes act as the "brakes" on cell growth, restraining cell division and differentiation. For a tumor to form due to a tumor suppressor gene mutation, both copies of the gene typically need to be altered.2
There are two forms of retinoblastoma: a nonhereditary (sporadic) form and a hereditary form that appears earlier in life. The "two-hit hypothesis" suggests that in the hereditary form, a child inherits one mutated RB allele, and a second mutation in the healthy allele of a retinal cell is required for tumor formation. In sporadic cases, two separate mutations must occur after conception, making it a rarer occurrence.2
Ask Britannica AI about this topic
Britannica doesn't have a full article on this topic, so we've curated a list of our relevant coverage.
tumor suppressor gene…form of eye cancer called retinoblastoma is caused by mutations in a gene designated RB. Subsequent research revealed that mutations in this gene also play a role in cancers of the bone, lung, breast, cervix, prostate, and bladder. A number of other tumor suppressor genes (such as TP53, which encodes…
Read More…form of eye cancer called retinoblastoma is caused by mutations in a gene designated RB. Subsequent research revealed that mutations in this gene also play a role in cancers of the bone, lung, breast, cervix, prostate, and bladder. A number of other tumor suppressor genes (such as TP53, which encodes…
Read More
human genetic diseaseGenetics of cancerRetinoblastoma, an aggressive tumor of the eye that typically occurs in childhood, offers perhaps one of the clearest examples of the interplay between inherited and somatic mutations in the genesis of cancer. Current data suggest that 60 to 70 percent of all cases of retinoblastoma…
Read MoreRetinoblastoma, an aggressive tumor of the eye that typically occurs in childhood, offers perhaps one of the clearest examples of the interplay between inherited and somatic mutations in the genesis of cancer. Current data suggest that 60 to 70 percent of all cases of retinoblastoma…
Read More
