Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.

Ulrik Kristoffer StoltzeAnne-Bine SkytteHenriette RoedHenrik HasleBent EjlertsenThomas van Overeem HansenKjeld SchmiegelowAnne-Marie GerdesKarin Wadt

Published in: PloS one (2018)

Germline TP53 mutations in Denmark are likely to be drastically underdiagnosed despite their severe phenotype. Following recent advances in surveillance options of LFS patients, lack of pre-symptomatic testing may lead to the mismanagement of some individuals.

Keyphrases

end stage renal disease
ejection fraction
dna repair
chronic kidney disease
public health
prognostic factors
peritoneal dialysis
early onset
dna damage