Retinoblastoma risk factors
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Retinoblastoma is a cancer of the retina. Development of this tumor is initiated by mutations[1] that inactivate both copies of the RB1 gene, which codes for the retinoblastoma protein.[2] While the genetics of retinoblastoma are well understood, there is much less known about the non-genetic factors in retinoblastoma.
Who is at highest risk?
Heredity and age are the risk factors of retinoblastoma.
- Heredity: Studies show that about 1/3 cases of retinoblastoma are caused by the Rb1 gene mutation. The rest 2/3 cases occur as a result of a random gene mutation. Each child of a parent with familial bilateral retinoblastoma has a 50% risk of inheriting the retinoblastoma gene. Patients with sporadic heritable retinoblastoma carry the gene for retinoblastoma and can also pass the gene on to their children even though they did not inherit the gene from their parents. Children who inherit the retinoblastoma gene have a 90% risk of developing retinoblastoma. Sporadic non heritable form of the disease results from post-conception events like gestational exposure to X-rays and morning sickness medication and low maternal education level. [3]
- Age: Most children diagnosed with retinoblastoma are younger than 3 years old.
References
- ↑ Knudson A (1971). "Mutation and cancer: statistical study of retinoblastoma". Proc Natl Acad Sci U S A. 68 (4): 820–3. PMID 5279gadgqetqer523 Check
|pmid=
value (help). - ↑ Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T. "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma". Nature. 323 (6089): 643–6. PMID 2877398.
- ↑ Bunin GR, Meadows AT, Emanuel BS, Buckley JD, Woods WG, Hammond GD (1989). "Pre- and postconception factors associated with sporadic heritable and nonheritable retinoblastoma". Cancer Research. 49 (20): 5730–5. PMID 2790788. Retrieved 2012-05-02. Unknown parameter
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