Genetic signatures of lung cancer: association and biomarker potential of EGFR, KRAS, and HER2 polymorphisms.

IF 2.7 3区医学 Q2 ONCOLOGY

Clinical & Translational Oncology Pub Date : 2026-10-16 DOI:10.1007/s12094-026-04586-0

Timothy C Ortiz, Nida Qasim, Kashif Bashir, Rimsha Adnan, Muhammad Sadullayev, Tashbaev Sherzodbek, Usamah Sayed

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引用次数: 0

Abstract

Background and objective: Lung cancer is a key global health challenge. Genetic variations in the key oncogenic pathways, including EGFR, HER2, and KRAS, can contribute to personal susceptibility and disease progression. The objective of this study was to assess the association between single-nucleotide polymorphisms (SNPs) in candidate genes, including KRAS, HER2, and EGFR, and lung cancer risk in the Pakistani population.

Methodology: The case-control study comprised 600 participants, including 300 patients with histologically verified lung cancer and 300 healthy controls. DNA was extracted, followed by ARMS-PCR for genotyping.

Results: Genetic research revealed a strong correlation between EGFR (rs712829) and lung cancer risk. The mutant (TT) genotype had a protective effect (OR = 0.11; 95% CI = 0.07-0.17; p < 0.0001), whereas the mutant (GT) significantly increased the risk (OR = 3.27; 95%CI = 2.32-4.60; p < 0.0001). The polymorphisms of the other two genes, HER2 and KRAS, did not show any significant association with disease. All demographic parameters, including age, gender, and smoking, did not show any significant association in our studied population.

Conclusions: This study determined that polymorphisms in the EGFR and KRAS genes were found to be significantly associated with lung cancer risk, whereas HER2 variations were found to have a potential protective role.

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肺癌的遗传特征：EGFR、KRAS和HER2多态性的关联和生物标志物潜力。

背景和目的：肺癌是一项重大的全球健康挑战。关键致癌途径的遗传变异，包括EGFR、HER2和KRAS，可以促进个人易感性和疾病进展。本研究的目的是评估候选基因（包括KRAS、HER2和EGFR）的单核苷酸多态性（snp）与巴基斯坦人群肺癌风险之间的关系。方法：病例对照研究包括600名参与者，其中包括300名组织学证实的肺癌患者和300名健康对照。提取DNA，进行ARMS-PCR分型。结果：遗传学研究显示EGFR （rs712829）与肺癌风险有很强的相关性。突变体（TT）基因型具有保护作用（OR = 0.11; 95%CI = 0.07-0.17; p < 0.0001），而突变体（GT）基因型显著增加了风险（OR = 3.27; 95%CI = 2.32-4.60; p < 0.0001）。另外两个基因HER2和KRAS的多态性没有显示出与疾病的显著相关性。所有人口统计参数，包括年龄、性别和吸烟，在我们的研究人群中没有显示出任何显著的关联。结论：本研究确定EGFR和KRAS基因的多态性与肺癌风险显著相关，而HER2变异被发现具有潜在的保护作用。

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

Clinical & Translational Oncology 医学-肿瘤学

CiteScore

6.20

自引率

2.90%

发文量

240

审稿时长

1 months

期刊介绍： Clinical and Translational Oncology is an international journal devoted to fostering interaction between experimental and clinical oncology. It covers all aspects of research on cancer, from the more basic discoveries dealing with both cell and molecular biology of tumour cells, to the most advanced clinical assays of conventional and new drugs. In addition, the journal has a strong commitment to facilitating the transfer of knowledge from the basic laboratory to the clinical practice, with the publication of educational series devoted to closing the gap between molecular and clinical oncologists. Molecular biology of tumours, identification of new targets for cancer therapy, and new technologies for research and treatment of cancer are the major themes covered by the educational series. Full research articles on a broad spectrum of subjects, including the molecular and cellular bases of disease, aetiology, pathophysiology, pathology, epidemiology, clinical features, and the diagnosis, prognosis and treatment of cancer, will be considered for publication.