Abstract
Breast cancer is the most common carcinoma in women worldwide. The present case-control study was aimed to examine the association of BCL-2 (-938C> A), BAX (-248G > A), and HER2 (I655V i.e. A > G) polymorphisms with breast cancer risk in Indian population. This study enrolled 117 breast cancer cases and 104 controls. BCL-2 (-938C > A), BAX (-248G > A), and HER2 Ile655Val polymorphisms were screened by PCR-RFLP method. There was no significance difference in the allelic and genotype frequency of the BCL-2 (-938C > A) and BAX (-248G > A) polymorphisms between cases and controls. In relation to HER2 Ile655Val polymorphism, the statistical analysis of observed genotypic frequencies showed significant association (p-0.0059). Compared to Ile/Ile (A/A) genotype, frequency of Ile/Val (A/G) genotype was significantly higher among cases than in control group and observed to increase the breast cancer risk (OR, 2.43; 95%CI, 1.32–4.46; p-0.004). The frequency of Val (G) allele was significantly higher in cases as compared to controls (6.83% vs 2.88%, resp.). Compared to Ile (A) allele, significant increase in the risk of breast cancer was observed with Val (G) allele (OR, 2.21; 95% CI, 1.35–3.63; p-0.0016). We observed significant association between HER2 Ile655Val polymorphism and breast cancer risk under the dominant (OR = 2.52; 95% CI: 1.41–4.51; p-0.001) and codominant (OR, 2.24; 95% CI: 1.23–4.09; p-0.008) model. In our study, BCL-2 (-938C > A) and BAX (-248G > A) polymorphism were not found to be associated with breast cancer risk. This present study for the first time shows significant association of HER2 Ile655Val polymorphism with risk of breast cancer in Indian population. Therefore, we suggest that each population need to evaluate its own genetic profile for breast cancer risk that may be helpful for better understanding the racial and geographic differences reported for breast cancer incidence and mortality.
Highlights
Breast cancer is the leading cause of cancer-related deaths and it is the most common type of cancer among women worldwide [1]
Association of BCL-2 (-938C>A) Polymorphism with Breast Cancer. e genotype and allele frequencies of BCL-2 (-938C>A) polymorphism in cases and control are summarized in Table 2. e frequencies of CC, AC, and AA genotypes were 29.05%, 47.86%, and 23.07% in cases and 28.84%, 49.03%, and 22.11% in controls, respectively. e statistical analysis of observed genotypic frequencies did not show significant association (p-0.980)
We did not find any significant association between BCL-2(-938C>A) polymorphism and breast cancer risk under recessive, dominant, and codominant models
Summary
Breast cancer is the leading cause of cancer-related deaths and it is the most common type of cancer among women worldwide [1]. Various risk factors are associated with the development, pathogenesis, and progression of breast cancer, including genetic, environmental, biological, and lifestyle factors [3]. Apoptosis and cellular proliferation have a significant role in normal development and carcinogenesis of mammary gland [7]. Delicate homeostasis between apoptosis and proliferation in normal tissues is maintained by variety of proteins of the BCL-2 family. BCL-2 gene is located on chromosome 18q21.3 [9] and comprises of three exons and two promoters (P1 and P2), both having different functions. Dysregulation in the BCL-2 and BAX genes expression may cause disruption of cellular homeostasis and origin of malignancy. E functional promoter polymorphisms in BCL-2 and BAX genes were found to change the protein expression or function that may have an effect on the delicate balance in mechanisms which regulate apoptosis Dysregulation in the BCL-2 and BAX genes expression may cause disruption of cellular homeostasis and origin of malignancy. e functional promoter polymorphisms in BCL-2 and BAX genes were found to change the protein expression or function that may have an effect on the delicate balance in mechanisms which regulate apoptosis
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