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A genetic variant in CDKN2A/2B locus was associated with poor prognosis in patients with 1 esophageal squamous cell carcinoma

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posted on 2023-06-09, 14:25 authored by 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 FernsGordon Ferns, Amir Avan
Esophageal squamous cell carcinoma (ESCC) is among the leading causes of cancer related death. Despite 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 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 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 ESCC patients. Further investigations are warranted in a larger population to explore the value of emerging markers as a risk stratification marker in ESCC. Key word: Esophageal squamous cell carcinoma, risk marker, CDKN2A/B, polymorphism

History

Publication status

  • Published

File Version

  • Accepted version

Journal

Journal of Cellular Physiology

ISSN

0021-9541

Publisher

Wiley

Issue

4

Volume

234

Page range

5070-5076

Department affiliated with

  • BSMS Publications

Full text available

  • Yes

Peer reviewed?

  • Yes

Legacy Posted Date

2018-08-08

First Open Access (FOA) Date

2019-09-21

First Compliant Deposit (FCD) Date

2018-08-07

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