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

Ghobadi, Niloofar, Mehramiz, Mehrane, ShahidSales, Soodabeh, Brojerdi, Arezou Rezaei, Anvari, Kazem, Khazaei, Majid, Rezayi, Majid, Khorrami, Mohammad Sadegh, Joudi-Mashhad, Mona, Ramshini, Hassan, Ahmadi-Simab, Saeideh, Moradi, Ali, Hassanian, Seyed Mahdi, Ghayour-Mobarhan, Majid, Boroushaki, Mohammad Taher, Ferns, Gordon A and Avan, Amir (2019) A genetic variant in CDKN2A/2B locus was associated with poor prognosis in patients with 1 esophageal squamous cell carcinoma. Journal of Cellular Physiology, 234 (4). pp. 5070-5076. ISSN 0021-9541

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Abstract

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

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Brighton and Sussex Medical School
Brighton and Sussex Medical School > Division of Medical Education
Depositing User: Elizabeth Renvoize
Date Deposited: 08 Aug 2018 08:55
Last Modified: 21 Sep 2019 01:00
URI: http://sro.sussex.ac.uk/id/eprint/77618

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