Evaluation of PIK3CA, AKT1, and mTOR Genes Polymorphisms in a Sample of Iranian Women with Breast Cancer Compared with Healthy Women.

Q2 Medicine

Asian Pacific Journal of Cancer Prevention Pub Date : 2026-09-01 DOI:10.31557/APJCP.2026.27.9.3245

Reza Mahdizadeh, Alireza Nakhaee, Mohsen Taheri, Seyed Mehdi Hashemi, Gholamreza Bahari

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Abstract

Objective: Breast cancer (BC) is the most common cancer among women globally, with Iranian women showing an earlier onset compared to those in Western countries. Genetic variations in the PI3K/AKT/mTOR signaling pathway have been implicated in cancer susceptibility, but limited studies exist on the association of these polymorphisms with BC risk in the Iranian population. This study aimed to investigate the associations of specific polymorphisms in the AKT1, PIK3CA, and mTOR genes with BC susceptibility in an Iranian population.

Methods: A case-control study was conducted with 222 confirmed BC patients and 230 cancer-free controls. Genotyping of AKT1 rs1130214 and rs1130233, PIK3CA rs6443624, and mTOR rs1883965 polymorphisms was performed using PCR-RFLP methods. Statistical analysis was carried out using logistic regression to evaluate the associations between genotypes and BC risk.

Results: The AKT1 rs1130214 polymorphism was associated with a significantly reduced BC risk (codominant model: OR=0.44, 95% CI=0.30-0.65, p<0.001; allelic model: OR=0.52, 95% CI=0.38-0.72, p<0.001). Conversely, AKT1 rs1130233, PIK3CA rs6443624, and mTOR rs1883965 polymorphisms were linked to an increased BC risk in various inheritance models. For instance, the mTOR rs1883965 G>A variant showed a significantly higher risk (dominant model: OR=2.75, 95% CI=1.84-4.12, p<0.001).

Conclusion: This study indicates that polymorphisms in AKT1, PIK3CA, and mTOR genes are associated with altered BC risk among Iranian women. These findings propose that genetic variants in the PI3K/AKT/mTOR pathway could serve as potential biomarkers for BC susceptibility. Further research with larger cohorts and diverse populations is necessary to confirm these associations.

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伊朗乳腺癌女性与健康女性PIK3CA、AKT1和mTOR基因多态性的比较

目的：乳腺癌（BC）是全球女性中最常见的癌症，与西方国家相比，伊朗女性的发病时间更早。PI3K/AKT/mTOR信号通路的遗传变异与癌症易感性有关，但在伊朗人群中，这些多态性与BC风险的关联研究有限。本研究旨在调查伊朗人群中AKT1、PIK3CA和mTOR基因的特异性多态性与BC易感性的关系。方法：222例确诊BC患者和230例无癌对照进行病例对照研究。采用PCR-RFLP方法对AKT1 rs1130214和rs1130233、PIK3CA rs6443624和mTOR rs1883965多态性进行基因分型。采用logistic回归进行统计分析，评估基因型与BC风险之间的关系。结果：AKT1 rs1130214多态性与显著降低的BC风险相关（共显性模型：OR=0.44, 95% CI=0.30-0.65）， pA变异与显著升高的BC风险相关（显性模型：OR=2.75, 95% CI=1.84-4.12）。结论：本研究表明，AKT1、PIK3CA和mTOR基因多态性与伊朗女性BC风险改变相关。这些发现表明，PI3K/AKT/mTOR通路的遗传变异可能作为BC易感性的潜在生物标志物。需要对更大的队列和不同的人群进行进一步的研究来证实这些关联。

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

Asian Pacific Journal of Cancer Prevention 医学-肿瘤学

CiteScore

2.80

自引率

0.00%

发文量

779

审稿时长

3 months

期刊介绍： Cancer is a very complex disease. While many aspects of carcinoge-nesis and oncogenesis are known, cancer control and prevention at the community level is however still in its infancy. Much more work needs to be done and many more steps need to be taken before effective strategies are developed. The multidisciplinary approaches and efforts to understand and control cancer in an effective and efficient manner, require highly trained scientists in all branches of the cancer sciences, from cellular and molecular aspects to patient care and palliation. The Asia Pacific Organization for Cancer Prevention (APOCP) and its official publication, the Asia Pacific Journal of Cancer Prevention (APJCP), have served the community of cancer scientists very well and intends to continue to serve in this capacity to the best of its abilities. One of the objectives of the APOCP is to provide all relevant and current scientific information on the whole spectrum of cancer sciences. They aim to do this by providing a forum for communication and propagation of original and innovative research findings that have relevance to understanding the etiology, progression, treatment, and survival of patients, through their journal. The APJCP with its distinguished, diverse, and Asia-wide team of editors, reviewers, and readers, ensure the highest standards of research communication within the cancer sciences community across Asia as well as globally. The APJCP publishes original research results under the following categories: -Epidemiology, detection and screening. -Cellular research and bio-markers. -Identification of bio-targets and agents with novel mechanisms of action. -Optimal clinical use of existing anti-cancer agents, including combination therapies. -Radiation and surgery. -Palliative care. -Patient adherence, quality of life, satisfaction. -Health economic evaluations.