Breast cancer is a complex disease due to its extremely complicated and varied etiology. It is found to be linked to improper transcription factor activation that interferes with normal breast development. Among these factors, signal transducer and activator of transcription (STAT) proteins play a crucial role in regulating gene expression and cell signaling. Specifically, STAT3, a member of the STAT family, has been found to be constitutively active in various cancer types, including breast cancer. Three STAT3 SNPs (rs744166, rs229152, and rs4796793) were widely investigated in association with cancer diseases in many populations, yet the findings were conflicting. This study seeks to evaluate the association risk of these three SNPs with breast cancer in Moroccan women. This case–control study consisted of 200 breast cancer cases and 200 age- and sex-matched healthy controls. The extraction was carried out from whole blood by the salting-out method. Genotypes were defined using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and sequence-specific primer–polymerase chain reaction (SSP–PCR) methods. In the over-dominant model (GG–CC vs. GC), the rs4796793*GC genotype was linked to a higher risk of breast cancer among triple-negative cases. Additionally, a significant association has been revealed between HER2 and the mutant genotype of the two polymorphisms rs744166 and rs4796793. Moreover, the STAT3 rs744166*AG genotype was less common in cases with late-stage (grade III) disease. These findings suggest that STAT3 polymorphisms are associated with triple-negative breast cancer and HER2+ type; the top two lethal breast cancer in Moroccans.

中文翻译：

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摩洛哥人群STAT3基因多态性与乳腺癌易感性


乳腺癌是一种复杂的疾病，其病因极其复杂且多样。研究发现，它与转录因子激活不当有关，从而干扰正常的乳房发育。在这些因素中，信号转导子和转录激活子（STAT）蛋白在调节基因表达和细胞信号传导中发挥着至关重要的作用。具体而言，STAT3（STAT 家族的成员）已被发现在包括乳腺癌在内的多种癌症类型中具有组成性活性。三个 STAT3 SNP（rs744166、rs229152 和 rs4796793）在许多人群中被广泛研究与癌症疾病的关联，但研究结果是相互矛盾的。本研究旨在评估这三个 SNP 与摩洛哥女性乳腺癌的关联风险。这项病例对照研究包括 200 例乳腺癌病例和 200 例年龄和性别匹配的健康对照。通过盐析法从全血中进行提取。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和序列特异性引物-聚合酶链反应（SSP-PCR）方法定义基因型。在过度显性模型（GG-CC 与 GC）中，rs4796793*GC 基因型与三阴性病例中较高的乳腺癌风险相关。此外，还揭示了 HER2 与 rs744166 和 rs4796793 两个多态性的突变基因型之间存在显着关联。此外，STAT3 rs744166*AG 基因型在晚期（III 级）疾病病例中较少见。这些发现表明 STAT3 多态性与三阴性乳腺癌和 HER2+ 型相关；摩洛哥人最致命的两种乳腺癌。