title: Analysis of RTEL1 and PCDHGB6 promoter methylation in circulating-free DNA of lung cancer patients using liquid biopsy: A pilot study.
abstract: Analysis of epigenetic alterations such as methylation of circulating-free DNA (cf-DNA) expression significantly broadened perspectives of lung cancer (LC) screening. Moreover, methylation of tumor suppressor genes may be analyzed with non-invasive manner in patients' blood samples (liquid biopsy), what underline necessity of detailed investigation of tumor cf-DNA.
  
  
  
  The purpose of current study was to assess methylation of RTEL1 and PCDHGB6 promoter regions in cf-DNA of 70 LC patients and 80 healthy individuals using qMSP-PCR technique. Methylation status of both genes has not been investigated in cf-DNA of LC patients before.
  
  
  
  PCDHGB6 promoter methylation was found in 41.4% of LC patients and in 1.3% of healthy individuals, whereas promoter of RTEL1 was found methylated in 51.4% of LC patients and in 8.8% of healthy individuals. Combined analysis of two markers improved test sensitivity up to 62.9% and specificity up to 90% with area under the curve (AUC) in receiver operating curve (ROC) of 0.755.
  
  
  
  The evaluation of RTEL1 and PCDHGB6 promoter methylation may be an useful tool for non-invasive diagnosis of LC in liquid biopsy.
authors.affiliation: a Department of Pneumonology, Oncology, and Allergology , Medical University of Lublin , Lublin , Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Powrózek
authors.affiliation: a Department of Pneumonology, Oncology, and Allergology , Medical University of Lublin , Lublin , Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Krawczyk
authors.affiliation: b Department of Pulmonology, Allergology, and Respiratory Oncology , Poznan University of Medical Sciences , Poznan , Poland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Kuźnar-Kamińska
authors.affiliation: b Department of Pulmonology, Allergology, and Respiratory Oncology , Poznan University of Medical Sciences , Poznan , Poland.
authors.forename: Halina
authors.initials: H
authors.lastname: Batura-Gabryel
authors.affiliation: a Department of Pneumonology, Oncology, and Allergology , Medical University of Lublin , Lublin , Poland.
authors.forename: Janusz
authors.initials: J
authors.lastname: Milanowski
mesh_terms: D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000097:blood*; D015820:Cadherins / Q000235:genetics*; D016022:Case-Control Studies; D004265:DNA Helicases / Q000235:genetics*; D019175:DNA Methylation; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000097:blood*; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D000091363:Protocadherins
chemical_list: D014408:Biomarkers, Tumor; D015820:Cadherins; C473689:PCDHGB6 protein, human; D000091363:Protocadherins; C532890:RTEL1 protein, human; D004265:DNA Helicases
keywords: DNA methylation; PCDHGB6; RTEL1; biomarker; circulating-free DNA