Retinoblastoma (RB) is known as one of the common primary
malignant intraocular tumor of childhood which occurs
in 1% of all tumors in infancy. There are two main forms of
RB; genetic and sporadic. RB1 gene mutation analysis have
significant importance for determining alternative treatment
options to reduce the risk of secondary malignancy especially
increased with EBRT (External Beam Radiotherapy)
treatment in patients with the germline mutation of RB1
gene (genetic form) and increase the survival rate. In recent
studies on the RB pathway have shown that function of RB
gene is inactivated in many cancers. The retinoblastoma gene
pathway is mostly mutated, if not all human tumors. Recent
proteomic data suggests that many unknown pathways affect
pRB regulation. Understanding of the RB pathway will give
us a chance discovering novel targets and cancer therapeutics
for cancer treatments.
Keywords: Cancer; mutation; retinoblastoma gene
