hTERT rs2735940 polymorphism influences lung cancer risk and overall survival in lung cancer patients undergoing platinum-based doublet chemotherapy.

IF 3.9 3区医学 Q1 PATHOLOGY

Expert Review of Molecular Diagnostics Pub Date : 2025-05-05 DOI:10.1080/14737159.2025.2500657

Anjali Saini, Heena Kansal, Navneet Singh, Siddharth Sharma

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引用次数: 0

Abstract

Background: The hTERT gene is an essential part of the telomerase enzyme, preserving telomere length and encouraging cellular immortality. The study aimed to investigate whether the TERT gene SNP was associated with an increased risk of lung cancer in the North Indian population.

Research design and methods: 387 lung cancer patients undergoing platinum-based chemotherapy and 384 healthy controls were genotyped for the TERT variant rs2735940 (T>C) using PCR-RFLP. The study aimed to determine the significant association between the TERT genetic variant and lung cancer risk.

Results: Patients carrying homozygous mutant genotype (CC) for rs2735940 showed a significant association (0 R = 2.4, p = 0.03). Furthermore, in dominant model, the combination genotype (TC+CC) showed an increased risk of lung cancer susceptibility with an AOR of 1.67 (p = 0.0016). For TERT rs2735940, individuals with SCLC carrying the mutant genotype (CC) were significantly more likely to develop lung cancer (p = 0.0004). Our results also showed that lung cancer patients carrying the TERT rs2735940 genetic variant who received a combination of docetaxel and cisplatin/carboplatin had better prognosis as compared to alternative chemotherapy regimens.

Conclusion: Our study associates' chemotherapy toxicities in North Indian lung cancer patients and the TERT polymorphism rs2735940, delivering insights for improving biomarker development and individualized treatment.

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hTERT rs2735940多态性影响铂类双重化疗肺癌患者的肺癌风险和总生存期

背景：hTERT基因是端粒酶的重要组成部分，保持端粒长度并促进细胞不朽。该研究旨在调查TERT基因SNP是否与北印度人群中肺癌风险增加有关。研究设计与方法：采用PCR-RFLP方法对387例接受铂类化疗的肺癌患者和384名健康对照者进行TERT变异rs2735940 （T>C）基因分型。该研究旨在确定TERT基因变异与肺癌风险之间的显著关联。结果：携带rs2735940纯合突变基因型（CC）的患者存在显著相关性（0 R = 2.4, p = 0.03）。此外，在优势模型中，联合基因型（TC+CC）的肺癌易感风险增加，AOR为1.67 （p = 0.0016）。对于TERT rs2735940，携带突变基因型（CC）的SCLC个体患肺癌的可能性显著增加（p = 0.0004）。我们的研究结果还显示，携带TERT rs2735940基因变异的肺癌患者接受多西他赛和顺铂/卡铂联合治疗，与其他化疗方案相比，预后更好。结论：我们的研究将北印度肺癌患者的化疗毒性与TERT多态性rs2735940联系起来，为改善生物标志物的开发和个体化治疗提供了见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Expert Review of Molecular Diagnostics 医学-病理学

CiteScore

6.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.