title: Copy number loss of variation_91720 in PIK3CA predicts risk of esophageal squamous cell carcinoma.
abstract: OBJECTIVE
  Esophageal squamous cell carcinoma (ESCC) is one of the most fatal cancers worldwide. However, the etiology is complex and unclear. 3q26 harboring abundant oncogenes have been identified as the loci of ESCC susceptibility. In the present study, we examined whether CNVs on 3q26 would be associated with the risk, TNM stage and prognosis of ESCC.
  
  
  METHODS
  Variation_91720 in phosphatidylinositol 3-kinase catalytic subunit (PIK3CA) and Variation_91733 in sex-determining region Y-box 2 overlapping transcript (SOX2OT) were selected for investigation. The study included 204 ESCC patients and 208 healthy controls. The copy number of the selected sites and mRNA was detected by real-time fluorescence quantitative polymerase chain reaction and calculated using the CopyCaller v2.0 software program.
  
  
  RESULTS
  The copy number distribution of Variation_91720 was significantly different in ESCC cases and matched controls (p<0.001). Copy number loss of Variation_91720 may increase the risk of ESCC (OR=6.217, 95% CI=3.117-12.400; adjusted OR =6.251, 95% CI=3.130-12.428). PIK3CA mRNA expression was higher in tumor tissue (P=0.0003) and increased with the copy number gain of Variation_91720.
  
  
  CONCLUSIONS
  Our findings suggest that copy number loss of Variation_91720 in PIK3CA predicts risk of ESCC, which might serve as a biomarker that for early diagnosis of ESCC.
authors.affiliation: Department of Medical Genetics, Third Military Medical University Chongqing, PR China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Cardiothoracic Surgery, Southwest Hospital, Third Military Medical University Chongqing, PR China.
authors.forename: Xi
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Cardiothorcic Surgery, Nanjing General Hospital of Nanjing Military Command Nanjing 210002, China.
authors.forename: Liwen
authors.initials: L
authors.lastname: Hu
authors.affiliation: Department of Medical Genetics, Third Military Medical University Chongqing, PR China.
authors.forename: Huansheng
authors.initials: H
authors.lastname: Tao
authors.affiliation: Department of Medical Genetics, Third Military Medical University Chongqing, PR China.
authors.forename: Xingying
authors.initials: X
authors.lastname: Guan
authors.affiliation: Department of Cardiothoracic Surgery, Southwest Hospital, Third Military Medical University Chongqing, PR China.
authors.forename: Kun
authors.initials: K
authors.lastname: Zhang
authors.affiliation: Department of Medical Genetics, Third Military Medical University Chongqing, PR China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Bai
authors.affiliation: Department of Cardiothoracic Surgery, Southwest Hospital, Third Military Medical University Chongqing, PR China.
authors.forename: Kang
authors.initials: K
authors.lastname: Yang
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000201:enzymology / Q000235:genetics* / Q000401:mortality / Q000473:pathology / Q000601:surgery; D016022:Case-Control Studies; D058534:Class I Phosphatidylinositol 3-Kinases; D056915:DNA Copy Number Variations; D055088:Early Detection of Cancer; D004938:Esophageal Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000401:mortality / Q000473:pathology / Q000601:surgery; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D005453:Fluorescence; D018628:Gene Dosage; D015972:Gene Expression Regulation, Neoplastic; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D062085:RNA, Long Noncoding / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D012307:Risk Factors; D012984:Software; D013997:Time Factors
chemical_list: D014408:Biomarkers, Tumor; D062085:RNA, Long Noncoding; D012333:RNA, Messenger; C000610979:long non-coding RNA Sox2ot, human; D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: Copy number variation; esophageal squamous cell carcinoma; phosphatidylinositol 3-kinase catalytic subunit; sex determining region Y-box 2 overlapping transcript; susceptibility
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