Diagnostic and prognostic value of single nucleotide polymorphisms in autophagy-related genes (ATG) among Egyptian patients with breast cancer disease

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.