ABSTRACT
Breast cancer is a disease in which cells in breast tissue alter and divide uncontrolled, typically resulting in lump. Most of them are begin in the lobules or in the ducts that connect lobules to the nipple. Increased expression of some genes due to polymorphisms increases the risk of breast cancer incidence.
A total of 210 women were enrolled in this study, A hundred and forty patients with different types and stages of breast tumor (70 malignant breast cancer and 70 benign breast disease), before mastectomy and did not suffer chemo- or radiotherapy, in addition to patients, the study involved 70 healthy female subjects as a control group, who attended public and private hospitals during the period of December, 2020 to May, 2021.
The results of this study showed that, the most susceptible age for malignant BC incidence was between 40-50 years, while for BBD, was 30-40 years old. The results of the current study revealed 1st, 2nd, and 3rd degrees altogether of family history has a strong relationship with malignant BC. The results showed a strong association between BC and body mass index (BMI) to a highly significant extent.
The levels of serum IL-12 and IL-35 concentrations were decreased significantly in both groups of patients when compared to the control.
Malignant BC was shown to be linked to an abnormal expression of the IL-12 subunit p40 gene. Malignant BC risk increases if the patient has the minor allele A. Furthermore, it has been revealed that two of the three possible genotypes are found for the IL-12p40 +1188A/C SNP, which increased the risk of BC illness among Erbil residents with the AA and CC genotypes.
Polymorphisms in major interleukin genes (IL12 A/C/T, IL12 G/A, and EBI3) were found to have a substantial impact on BC susceptibility or severity. The results of gene polymorphism of the studied cytokine IL35 (IL-12 A rs582054 A/C/T) demonstrated significant differences for both BBD, malignant BC patients versus the control for the heterozygous mutant genotype AT.
Heterozygous AT genotype of IL-12 A rs582054 A/C/T SNP can be of risk nearly two-fold (RR was 2.12 for BBD and 1.88 for malignant BC) as compared to the control group and makes it as a risk genotype for BC, which means a higher susceptibility of this genotype carriers to get the disease.
According to the genotypes, high producers (CT & TT) were found higher in the control group than patient groups. this means the carriers of genotypes CT & TT are a strongly protective (preventive) factor (PF) for BC progression, while high producers AA were found in the BBD as a preventive factor.
The etiologic fraction (EF) of allele A as an RF for BBD & malignant BC, suggesting that this allele conferred an increased risk for breast disease development in Erbil women. According to this study’s findings, the IL12B rs3212227 SNP major allele A contributes to an elevated risk of BC development, but the minor C allele may have a protective role in BC.