Autophagy-related genes (ATGs), associated with autophagy, contribute to the pathogenesis of many illnesses, including cancer. ATGs’ role in breast cancer (BC) is still under investigation. Therefore, the current study aimed to determine whether genetic variants in core ATGs correlate with BC prognosis and investigate their impact on protein plasma levels. This case–control study was carried out on 70 BC patients as well as 70 cancer-free controls in order to determine the association of these variants with BC risk. ATG10 (rs1864182) and ATG7 (rs1375206) polymorphisms were genotyped in whole blood samples using TaqMan SNP Genotyping Assays, and ATG7 and ATG10 levels in plasma were determined using ELISA. The results revealed that ATG7 (rs1375206) might contribute to BC, as patients with the GG genotype displayed a substantial association with BC (OR = 3.23, 95% CI 1.12–9.5) as well as a significant increase in ATG7 protein expression. For ATG7 rs1375206, genotypes GG was significantly associated with increased BC risk; carriers of the G allele frequently have a bad prognosis compared to carriers of the CC genotype (OR of mortality equals 3.01). Serum ATG 7 in the breast cancer patients’ group was significantly higher than that in the control group (p < 0.001). In contrast, carriers of the ATG10 (rs1864182) CC genotype were significant with a lower risk of BC (OR = 0.31, 95% CI 0.26–0.79) when compared with patients with AA genotype, while serum ATG 10 protein levels were decreased in patients carrying C allele (p < 0.05). Carriers of the C allele frequently have a good prognosis (OR of mortality equals 0.79) also the C allele were significantly less likely to have higher grade tumor (14.3% compared to 65.2% of A allele). Single gene polymorphisms (SNPs) within the ATG7 (rs1375206) and ATG 10 (rs1864182) are substantially correlated with BC among Egyptian females. Consequently, SNPs should be considered critical prognostic markers for distinguishing individuals with ATG7 (rs1375206) at elevated risk of developing BC as well as its progression from those with ATG 10 (rs1864182) at lower risk and the effect of these SNPs on its protein expression levels as ATG7 (rs1375206) polymorphism associated with decreased plasma ATG7 level, on the other hand, ATG 10 (rs1864182) polymorphism accompanied with increased ATG 10 plasma level.

中文翻译：

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自噬相关基因（ATG）单核苷酸多态性对埃及乳腺癌患者的诊断和预后价值

自噬相关基因 (ATG) 与自噬相关，与包括癌症在内的许多疾病的发病机制有关。ATG 在乳腺癌 (BC) 中的作用仍在研究中。因此，本研究旨在确定核心 ATG 的遗传变异是否与 BC 预后相关，并研究其对血浆蛋白水平的影响。这项病例对照研究对 70 名 BC 患者以及 70 名无癌症对照进行，以确定这些变异与 BC 风险的关联。使用 TaqMan SNP 基因分型测定对全血样本中的 ATG10 (rs1864182) 和 ATG7 (rs1375206) 多态性进行基因分型，并使用 ELISA 测定血浆中的 ATG7 和 ATG10 水平。结果显示，ATG7 (rs1375206) 可能与 BC 相关，因为 GG 基因型患者与 BC 显着相关（OR = 3.23，95% CI 1.12–9.5），并且 ATG7 蛋白表达显着增加。对于 ATG7 rs1375206，基因型 GG 与 BC 风险增加显着相关；与 CC 基因型携带者相比，G 等位基因携带者的预后通常较差（死亡率 OR 等于 3.01）。乳腺癌患者组的血清ATG 7 显着高于对照组（p < 0.001）。相比之下，与 AA 基因型患者相比，ATG10 (rs1864182) CC 基因型携带者患 BC 的风险较低（OR = 0.31，95% CI 0.26–0.79），而患者血清 ATG 10 蛋白水平降低携带 C 等位基因 (p < 0.05)。C 等位基因携带者通常具有良好的预后（死亡率 OR 等于 0.79），而且 C 等位基因患较高级别肿瘤的可能性也显着降低（A 等位基因为 14.3%，而 A 等位基因为 65.2%）。ATG7 (rs1375206) 和 ATG 10 (rs1864182) 内的单基因多态性 (SNP) 与埃及女性的 BC 显着相关。因此，SNP 应被视为关键的预后标志物，用于区分患有 BC 风险较高的 ATG7 (rs1375206) 个体以及其进展与风险较低的 ATG 10 (rs1864182) 个体，以及这些 SNP 对其蛋白表达水平的影响ATG7（rs1375206）多态性与血浆ATG7水平降低相关，另一方面，ATG 10（rs1864182）多态性伴随血浆ATG 10水平升高。