Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect.

doi:10.1016/j.ejca.2004.12.022

Article

Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect.

European journal of cancer (Oxford, England : 1990) - 1 Mar 2005

Schüler A, Weber S, Neuhäuser M, Jurklies C, Lehnert T, Heimann H, Rudolph G, Jöckel K-H, Bornfeld N, Lohmann D R

Abstract excerpt

Patients with hereditary cancer are usually diagnosed earlier than patients with non-hereditary tumours. In children with isolated unilateral retinoblastoma, some of whom have a hereditary predisposition, this rule has been subject to debate. We have analysed the clinical manifestation of disease in 188 children with completely resolved mutational status. In 24 (13%) of these patients, testing of blood DNA showed...

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Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect.

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