Evaluation of TP53 Variants Detected on Peripheral Blood or Saliva Testing: Discerning Germline From Somatic TP53 Variants.

Alison N Schwartz Sophie R HymanSamantha M StokesDanielle CastilloNadine M Tung Jeffrey N Weitzel Huma Q Rana Judy E Garber

Published in: JCO precision oncology (2022)

P/LP germline variants; these patients plus those with constitutional mosaicism require intensified surveillance. A framework of multiple strategies enables discernment of germline from constitutional mosaic and acquired variants, which is essential for appropriate management.

Keyphrases

copy number
peripheral blood
dna repair
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
public health
prognostic factors
genome wide
dna methylation
patient reported outcomes