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[Genetic counseling and interdisciplinary management of retinoblastoma].

作者信息

Müller H

机构信息

Abteilung Humangenetik, Universitätskinderklinik Basel.

出版信息

Klin Monbl Augenheilkd. 1993 May;202(5):433-6. doi: 10.1055/s-2008-1045621.

Abstract

The rare childhood malignancy retinoblastoma (Rb) serves as one of the most important models in modern cancer genetics, since the study of its familial and sporadic occurrence has lead to the identification of the first so-called tumor suppressor gene. The nature of the Rb-predisposition and its mode of transmission could also hold true for many other familial cancers. An important goal of medical care is prevention, either by preventing the manifestation of retinoblastoma and of secondary malignancies related to the same predisposition or of their reaching an advanced stage of exacerbation. This can only be achieved by the close collaboration of several medical specialists. The human geneticist can contribute by offering genetic counselling, including risk estimates for offsprings of affected individuals, and by the molecular estimation of the Rb-trait.

摘要

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