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Eur J Cancer. 1998 Nov;34(12):1919-21.

Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma.

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1
Department of Genetics and Pathology, Pomeranian Medical University, Poland.

Abstract

RB1 gene constitutional mutations were studied using 'exon-by-exon' sequencing in a series of 17 patients with sporadic unilateral retinoblastomas. Constitutional de novo germline mutations were detected in 4 patients. The age at diagnosis of retinoblastoma in all these cases was lower (mean 10.8 months; range 5-18) than in cases in which constitutional mutations were not found (mean 31.7 months; range 19-42). These results strongly indicate that age at retinoblastoma diagnosis may be a major factor for discriminating patients for whom a search for RB1 gene constitutional mutations could be justifiable in sporadic unilateral retinoblastomas.

PMID:
10023315
[Indexed for MEDLINE]

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