Detection of mosaic RB1 mutations in families with retinoblastoma

@article{Rushlow2009DetectionOM,
  title={Detection of mosaic RB1 mutations in families with retinoblastoma},
  author={Diane Rushlow and Beata Piovesan and Katherine Yanhang Zhang and Nadia L Prigoda-Lee and Mellone N. Marchong and Robin Dawn Clark and Brenda L Gallie},
  journal={Human Mutation},
  year={2009},
  volume={30}
}
The RB1 gene mutation detection rate in 1,020 retinoblastoma families was increased by the use of highly sensitive allele specific‐PCR (AS‐PCR) to detect low‐level mosaicism for 11 recurrent RB1 CGA>TGA nonsense mutations. For bilaterally affected probands, AS‐PCR increased the RB1 mutation detection sensitivity from 92.6% to 94.8%. Both RB1 oncogenic changes were detected in 92.7% of sporadic unilateral tumors (357/385); 14.6% (52/357) of unilateral probands with both tumor mutations… Expand
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