Investigation of the Effects of B7H4 (rs10754339 A>G) Gene Polymorphism and Serum Level on Breast Cancer Susceptibility.

Background: The prevalence of breast cancer groups requires further clarification to understand the mechanisms leading to its development. B7H4 is a novel immune checkpoint protein that negatively regulates T cell activation and function. It is overexpressed in several cancers and breast cancer is one of them.

Aim: This case-control study aimed to examine the association of B7H4 (rs10754339 A>G) gene polymorphism and its serum level with breast cancer among Egyptian females.

Method: The study enrolled 100 women with breast cancer and 100 healthy cancer-free women. B7H4 (rs10754339 A>G) genotyping was performed for all participants using Tetra-ARMS-PCR technology. Additionally, serum sB7-H4 level was measured using an ELISA method.

Results: B7H4 (rs10754339 A>G) gene variant indicated a substantially association with the breast cancer risk under various genetic models, including codominant model (AG genotype), dominant and over-dominant models (p<0.001). Also, the serum B7H4 level of patients was significantly higher in the patients than healthy controls (p<0.001).

Conclusion: The B7H4 (rs10754339 A>G) genetic variant was considered a risk factor for breast cancer among Egyptian women and assessment of serum B7H4 levels could be considered as a prognostic marker for breast cancer.