Send to

Choose Destination
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.

Author information

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


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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center