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Article

RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients

31 Mar 2014

Abstract excerpt

BACKGROUND: Retinoblastoma (Rb) is a childhood cancer of the retina, commonly initiated by biallelic inactivation of the RB1 gene. Knowledge of the presence of a heritable RB1 mutation can help in risk management and reproductive decision making. We report here on RB1 mutation scanning in a unique nationwide cohort of Rb patients from the Netherlands. METHODS: From the 1173 Rb patients registered in the Dutch...

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PMID: 24688104
DOI: 10.1136/jmedgenet-2014-102264

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