Supplementary Figure 1C from Molecular Triage of Premalignant Lesions in Liquid-Based Cervical Cytology and Circulating Cell-Free DNA from Urine, Using a Panel of Methylated Human Papilloma Virus and Host Genes

Abstract

<p>Phase 2 Biomarker Development Trial was performed to develop a clinical assay based on a specimen that can be obtained noninvasively. Promoter methylation of FKBP6, ZNF516 and INTS1 was quantified with qMSP in samples from three cohorts of women who underwent biopsy after colposcopy and were diagnosed with no intraepithelial lesions or malignancy (NILM) or Cervical Intraepithelial Neoplasia (CIN) grades 1-3. The first was a retrospective cohort of cervical brush samples (n=214) obtained from women in Chile who had a biopsy diagnosed with NILM (n=37), CIN1 (n=34), CIN2 (n=33), CIN3 (n=20), and squamous cell carcinoma (n=90). The second was a prospective cohort of liquid-based cytology samples (n=67) collected from women in Puerto Rico, which was used to confirm with qMSP the results previoulsy obtained in this experiment. The third was another prospective cohort (n=40) of samples collected from women in Puerto Rico who provided paired liquid-based cytology, plasma and urine samples. hrHPV status for cervical brush and liquid biopsy samples in each cohort was confirmed with a PCR based assay that quantifies E6 and E7 in genomic DNA. qMSP primers and probes for HPV16L1 gene were also used to test the cohorts from Puerto Rico.</p>