Promoter hypermethylation of tumor suppressor genes in serum as potential biomarker for the diagnosis of nasopharyngeal carcinoma

Fangyun Tian, Shea Ping Yip, Dora Lai Wan Kwong, Zhixiong Lin, Zhining Yang, Wing Cheung Vincent Wu

Research output: Journal article publicationJournal articleAcademic researchpeer-review

38 Citations (Scopus)


Purpose: Promoter hypermethylation of tumor suppressor genes may serve as a promising biomarker for the diagnosis of cancer. Cell-free circulating DNA (cf-DNA) shares hypermethylation status with primary tumors. This study investigated promoter hypermethylation of five tumor suppressor genes as markers in the detection of nasopharyngeal carcinoma (NPC) in serum samples. Methods: cf-DNA was extracted from serum collected from 40 NPC patients and 41 age- and sex-matched healthy subjects. The promoter hypermethylation status of the five genes (RASSF1, CDKN2A, DLEC1, DAPK1 and UCHL1) was assessed by methylation-specific PCR after sodium bisulfite conversion. Differences in the methylation status of these five genes between NPC patients and healthy subjects were compared. Results: The concentration of cf-DNA in the serum of NPC patients was significantly higher than that in normal controls. The five tumor suppressor genes - RASSF1, CDKN2A, DLEC1, DAPK1 and UCHL1 - were found to be methylated in 17.5%, 22.5%, 25.0%, 51.4% and 64.9% of patients, respectively. The combination of four-gene marker - CDKN2A, DLEC1, DAPK1 and UCHL1 - had the highest sensitivity and specificity in predicting NPC. Conclusion: Screening DNA hypermethylation of tumor suppressor genes in serum was a promising approach for the diagnosis of NPC.
Original languageEnglish
Pages (from-to)708-713
Number of pages6
JournalCancer Epidemiology
Issue number5
Publication statusPublished - 1 Oct 2013


  • Cell-free circulating DNA
  • Diagnosis
  • DNA hypermethylation
  • MSP
  • Nasopharyngeal carcinoma
  • Tumor suppressor genes

ASJC Scopus subject areas

  • Cancer Research
  • Oncology
  • Epidemiology

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