Estrogen Receptor 1 Gene (ESR1) rs2234693 Polymorphism and Breast Cancer Risk in Saudi Women

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• The estrogen receptor 1 (ESR1) gene plays a crucial role in breast cancer development and progression.
• Specific polymorphisms within the ESR1 gene, such as rs2234693 (PvuII), are investigated for their potential association with cancer susceptibility.
• Understanding these genetic associations can inform personalized risk assessment and treatment strategies.

Purpose of the Study:

• To investigate the association between the ESR1 gene rs2234693 T/C polymorphism and breast cancer susceptibility in Saudi women.
• To evaluate if this polymorphism is linked to the presence of estrogen and progesterone receptors, HER2 status, and menopausal status in breast cancer patients.

Main Methods:

• A retrospective case-control study design was employed.
• DNA was extracted from 137 breast cancer and 98 normal breast paraffin-embedded tissues.
• The ESR1 gene rs2234693 T/C polymorphism was genotyped using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP), followed by genetic association tests.

Main Results:

• No significant differences were observed in the distribution of rs2234693 T/C alleles and genotypes frequencies between cases and controls.
• The odds ratios for the polymorphism were not statistically significant (OR=1.15, 95% CI 0.8-1.66; OR=1.06, 95% CI 0.5-1.98).
• Frequencies of genotypes and alleles showed no significant association with different hormonal receptor groups or menopausal ages.

Conclusions:

• The ESR1 gene rs2234693 T/C polymorphism is not associated with breast cancer susceptibility in the studied Saudi population.
• This polymorphism also showed no significant association with menopausal status, hormone receptor status, or HER2 status in breast cancer patients.
• Further research with larger sample sizes is recommended to explore other ESR1 gene polymorphisms and their potential role in breast cancer risk.