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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Jonas HennIsabel SpierRonja S AdamStefanie HolzapfelSiegfried UhlhaasKatrin KayserGuido PlotzSophia PetersStefan Aretz
Published in: Hereditary cancer in clinical practice (2019)
The gene panel identified the genetic cause in some prescreened, unexplained HTS patients and generated incidental findings. Some patients harbored predicted pathogenic mutations in more than one established HTS gene, rendering interpretation of the respective alterations challenging. Established moderate risk genes showed an almost equal distribution among patients with known and unexplained disease.
Keyphrases
  • genome wide
  • end stage renal disease
  • ejection fraction
  • copy number
  • newly diagnosed
  • prognostic factors
  • peritoneal dialysis
  • genome wide identification
  • patient reported outcomes