The NF1 gene revisited – from bench to bedside

  title={The NF1 gene revisited – from bench to bedside},
  author={Yoon-Sim Yap and John R. McPherson and Choon Kiat Ong and Steven G Rozen and B. T. Teh and Ann SG Lee and David Frederick Callen},
Neurofibromatosis type 1 (NF1) is a relatively common tumour predisposition syndrome related to germline aberrations of NF1, a tumour suppressor gene. The gene product neurofibromin is a negative regulator of the Ras cellular proliferation pathway, and also exerts tumour suppression via other mechanisms. Recent next-generation sequencing projects have revealed somatic NF1 aberrations in various sporadic tumours. NF1 plays a critical role in a wide range of tumours. NF1 alterations appear to be… CONTINUE READING
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