Alpha estrogen receptor polymorphisms and their association with breast density

Area of Science:

• Genetics and Genomics
• Oncology
• Radiology

Background:

• Estrogen exposure and increased breast density (BD) are significant risk factors for breast cancer (BC) development.
• Understanding genetic predispositions related to estrogen receptor alpha (ER-alpha) is crucial for BC risk assessment.

Purpose of the Study:

• To investigate the association between XbaI and PvuII polymorphisms in the estrogen receptor (ER-alpha) gene and breast density (BD).
• To identify factors contributing to increased breast density in women undergoing mammography.

Main Methods:

• A cross-sectional study involving 225 women aged 40-65 without diagnosed cancer.
• Participants were categorized based on mammographically determined breast density (increased vs. normal).
• Genotyping for XbaI and PvuII polymorphisms in the ER-alpha gene was performed.

Main Results:

• No statistically significant differences were found in the frequencies of PvuII and XbaI genotypes between women with increased and normal breast density.
• Logistic regression analysis revealed that age, body mass index (BMI), and menopausal status were significantly associated with breast density.
• Obesity was prevalent, with 43.2% of participants being obese.

Conclusions:

• XbaI and PvuII ER-alpha genotypes do not appear to be directly associated with breast density.
• Clinical attention should focus on modifiable factors like BMI and menopausal status in relation to breast density.
• These findings underscore the importance of managing BMI for breast density assessment and potentially BC risk.