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Copy number loss of variation_91720 in PIK3CA predicts risk of esophageal squamous cell carcinoma.
Int J Clin Exp Pathol. 2015; 8(11):14479-85.IJ

Abstract

PURPOSE

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.

CONCLUSION

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+Show Affiliations

Department of Medical Genetics, Third Military Medical University Chongqing, PR China.Department of Cardiothoracic Surgery, Southwest Hospital, Third Military Medical University Chongqing, PR China.Department of Cardiothorcic Surgery, Nanjing General Hospital of Nanjing Military Command Nanjing 210002, China.Department of Medical Genetics, Third Military Medical University Chongqing, PR China.Department of Medical Genetics, Third Military Medical University Chongqing, PR China.Department of Cardiothoracic Surgery, Southwest Hospital, Third Military Medical University Chongqing, PR China.Department of Medical Genetics, Third Military Medical University Chongqing, PR China.Department of Cardiothoracic Surgery, Southwest Hospital, Third Military Medical University Chongqing, PR China.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26823766

Citation

Wu, Yuanyuan, et al. "Copy Number Loss of Variation_91720 in PIK3CA Predicts Risk of Esophageal Squamous Cell Carcinoma." International Journal of Clinical and Experimental Pathology, vol. 8, no. 11, 2015, pp. 14479-85.
Wu Y, Liu X, Hu L, et al. Copy number loss of variation_91720 in PIK3CA predicts risk of esophageal squamous cell carcinoma. Int J Clin Exp Pathol. 2015;8(11):14479-85.
Wu, Y., Liu, X., Hu, L., Tao, H., Guan, X., Zhang, K., Bai, Y., & Yang, K. (2015). Copy number loss of variation_91720 in PIK3CA predicts risk of esophageal squamous cell carcinoma. International Journal of Clinical and Experimental Pathology, 8(11), 14479-85.
Wu Y, et al. Copy Number Loss of Variation_91720 in PIK3CA Predicts Risk of Esophageal Squamous Cell Carcinoma. Int J Clin Exp Pathol. 2015;8(11):14479-85. PubMed PMID: 26823766.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Copy number loss of variation_91720 in PIK3CA predicts risk of esophageal squamous cell carcinoma. AU - Wu,Yuanyuan, AU - Liu,Xi, AU - Hu,Liwen, AU - Tao,Huansheng, AU - Guan,Xingying, AU - Zhang,Kun, AU - Bai,Yun, AU - Yang,Kang, Y1 - 2015/11/01/ PY - 2015/08/13/received PY - 2015/09/22/accepted PY - 2016/1/30/entrez PY - 2016/1/30/pubmed PY - 2016/11/1/medline KW - Copy number variation KW - esophageal squamous cell carcinoma KW - phosphatidylinositol 3-kinase catalytic subunit KW - sex determining region Y-box 2 overlapping transcript KW - susceptibility SP - 14479 EP - 85 JF - International journal of clinical and experimental pathology JO - Int J Clin Exp Pathol VL - 8 IS - 11 N2 - PURPOSE: 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. CONCLUSION: 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. SN - 1936-2625 UR - https://www.unboundmedicine.com/medline/citation/26823766/Copy_number_loss_of_variation_91720_in_PIK3CA_predicts_risk_of_esophageal_squamous_cell_carcinoma_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/26823766/ DB - PRIME DP - Unbound Medicine ER -