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A genetic variant in CDKN2A/2B locus was associated with poor prognosis in patients with esophageal squamous cell carcinoma |
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| Authors: | Niloofar Ghobadi Mehrane Mehramiz Soodabeh ShahidSales Arezou Rezaei Brojerdi Kazem Anvari Majid Khazaei Majid Rezayi Mohammad Sadegh Khorrami Mona Joudi-Mashhad Hassan Ramshini Saeideh Ahmadi-Simab Ali Moradi Seyed Mahdi Hassanian Majid Ghayour-Mobarhan Mohammad Taher Boroushaki Gordon A Ferns Amir Avan |
| Institution: | 1. Department of Biochemistry, Faculty of Sciences, Payam-e Noor University of Mashhad, Mashhad, Iran
Department of Biology, Payam e Noor University, Branch of Sabzevar, Sabzevar, Iran Equally contributed as first author.;2. Metabolic syndrome Research center, Mashhad University of Medical Sciences, Mashhad, Iran Equally contributed as first author.;3. Cancer Research Center, Mashhad University of Medical Sciences, Mashhad, Iran Equally contributed as first author.;4. Cancer Research Center, Mashhad University of Medical Sciences, Mashhad, Iran;5. Metabolic syndrome Research center, Mashhad University of Medical Sciences, Mashhad, Iran;6. Department of Modern Sciences and Technologies, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;7. Department of Biology, Payam e Noor University, Branch of Sabzevar, Sabzevar, Iran;8. Metabolic syndrome Research center, Mashhad University of Medical Sciences, Mashhad, Iran Department of Medical Biochemistry, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;9. Department of Pharmacology and Pharmacological Research Center of Medicinal Plants, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;10. Division of Medical Education, Brighton & Sussex Medical School, Brighton, Sussex, UK |
| Abstract: | Esophageal squamous cell carcinoma (ESCC) is among the leading causes of cancer related death. Despite of extensive efforts in identifying valid cancer prognostic biomarkers, only a very small number of markers have been identified. Several genetic variants in the 9p21 region have been identified that are associated with the risk of multiple cancers. Here, we explored the association of two genetic variants in the 9p21 region, CDKN2A/B, rs10811661, and rs1333049 for the first time in 273 subjects with, or without ESCC. We observed that the patients with ESCC had a higher frequency of a TT genotype for rs10811661 than individuals in the control group, and this polymorphism was also associated with tumor size. Moreover, a CC genotype for the rs1333049 polymorphism was associated with a reduced overall survival (OS) of patients with ESCC. In particular, patients with a CC (rs1333049) genotype had a significantly shorter OS (CC genotype: 34.5 ± 8.9 months vs. CG+GG: 47.7 ± 5.9 months; p value = 0.03). We have also shown the association of a novel genetic variant in CDKN2B gene with clinical outcome of patients with ESCC. Further investigations are warranted in a larger population to explore the value of emerging markers as a risk stratification marker in ESCC. |
| Keywords: | CDKN2A/B esophageal squamous cell carcinoma (ESCC) polymorphism risk marker |