Retinoblastoma causes: Difference between revisions

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{{Retinoblastoma}}
{{Retinoblastoma}}
==Overview==
==Overview==
*'''Retinoblastoma''' is a [[cancer]] of the [[retina]].  Development of this tumor is initiated by [[mutation]]s that inactivate both copies of the ''[[RB1]]'' gene, which codes for the [[retinoblastoma protein]]. In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene.
*'''Retinoblastoma''' is a [[cancer]] of the [[retina]]. In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene.The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. Inheritance is autosomal dominant with 90% penetrance.


==Causes==
==Causes==

Revision as of 15:07, 4 September 2015

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Overview

  • Retinoblastoma is a cancer of the retina. In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene.The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. Inheritance is autosomal dominant with 90% penetrance.

Causes

  • Retinoblastoma is caused by a mutation in a gene controlling cell division, causing cells to grow out of control and become cancerous.
  • In a little over half of the cases, this mutation develops in a child whose family has never had eye cancer.
  • Other times the mutation is present in several family members. If the mutation runs in the family, there is a 50% chance that an affected person's children will also have the mutation. They will therefore have a high risk of developing retinoblastoma themselves.
  • The cancer generally affects children under the age of 6. It is most commonly diagnosed in children aged 1 - 2 years.

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