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İstanbul Üniversitesi, Onkoloji Enstitüsü, Kanser Genetiği Bilim Dalı, İstanbul 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