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Nearly Half of TP53 Germline Variants Predicted To Be Pathogenic in Patients With Osteosarcoma Are De Novo: A Report From the Children's Oncology Group.

Brandon J DiessnerNathan D PankratzAnthony J HootenLisa MirabelloAaron L SarverLauren J MillsDavid MalkinAva C KelleyLogan G Spector
Published in: JCO precision oncology (2020)
Apart from TP53, we did not observe any other recurrent de novo P/LP variants in the case-parent trios, suggesting that new mutations in other genes are not a frequent cause of pediatric OS. That nearly half of P/LP TP53 variants in our sample were de novo suggests universal screening for germline TP53 P/LP variants among pediatric patients with OS should be considered.
Keyphrases
  • copy number
  • genome wide
  • dna repair
  • palliative care
  • gene expression
  • dna methylation
  • transcription factor