BCL-2 (-938C>A), BAX (-248G>A), and HER2 Ile655Val Polymorphisms and Breast Cancer Risk in Indian Population

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• Breast cancer is a leading cause of cancer-related mortality in women globally.
• Genetic predisposition plays a crucial role in breast cancer development.
• Understanding the association between specific gene polymorphisms and breast cancer risk is vital for risk assessment and targeted prevention strategies.

Purpose of the Study:

• To investigate the association between BCL-2 (-938C> A), BAX (-248G > A), and HER2 (Ile655Val) gene polymorphisms and the risk of breast cancer in the Indian population.
• To determine if these polymorphisms contribute to the genetic susceptibility of breast cancer in this demographic.
• To provide insights into the genetic factors influencing breast cancer incidence in India.

Main Methods:

• A case-control study design was employed, including 117 breast cancer cases and 104 healthy controls from the Indian population.
• Genotyping of BCL-2 (-938C > A), BAX (-248G > A), and HER2 Ile655Val polymorphisms was performed using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique.
• Statistical analysis was conducted to compare allelic and genotypic frequencies between cases and controls to assess risk association.

Main Results:

• No significant association was found between BCL-2 (-938C > A) and BAX (-248G > A) polymorphisms and breast cancer risk in the studied Indian population.
• A significant association was observed between the HER2 Ile655Val polymorphism and an increased risk of breast cancer.
• Individuals with the HER2 Ile/Val (A/G) genotype showed a significantly higher frequency compared to controls, indicating an elevated risk (OR, 2.43; p=0.004). The Val (G) allele was also significantly more frequent in cases (OR, 2.21; p=0.0016).

Conclusions:

• The BCL-2 (-938C > A) and BAX (-248G > A) gene polymorphisms are not associated with breast cancer risk in the Indian population.
• The HER2 Ile655Val polymorphism is significantly associated with an increased risk of breast cancer in the Indian population.
• This study highlights the importance of evaluating population-specific genetic profiles for breast cancer risk assessment, potentially explaining observed racial and geographic variations in incidence and mortality.