Is Angiotensin Converting Enzyme Insertion/Deletion (rs1799752) Polymorphism Associated with Breast Cancer Risk in Egyptian Population?

Background: According to GLOBOCAN estimates, breast cancer was found to be the most often diagnosed cancer in women worldwide, (11.7 %) and the fourth leading cause of cancer mortality (6.9 %).

Aim: The purpose of this study is to investigate the role of the Angiotensin I-converting enzyme (ACE) gene polymorphism in breast cancer prediction risk in Egyptian population.

Methods: Polymorphism detection analysis was performed on 163 subjects from breast cancer (BC) patients, 79 with Benign Breast Disease group (BBD) patients and 202 controls (C). ACE I/D (rs1799752) polymorphism were detected using polymerase chain reaction (PCR).

Results: The observed genotype frequencies were II 10.9%, ID 78.2% and DD 10.9% in healthy control, II 8.6%, ID 79.1% and DD 12.3% in BC patients and II 12.6%, ID 78.4% and DD 9% in BBD patients. There were no association between ACE gene polymorphisms, between the BC or BBD groups when compared to the control group (ORDD= 1.43, 95 % CI= (0.58-3.52), P= 0.29) and (ORDD= 1.29, 95 % CI= (0.57-2.95), P= 0.37) respectively. There was no risk estimate in BC or BBD when DD vs II + ID (Recessive) or ID vs II+ DD (Over-dominant) were compared to control. Allele frequencies show the same figure. From the different histological BC hormonal markers the Her2 was showing significant association in ID genotype of ACE I/D (rs1799752) (P= 0.04) and dominant model (II vs ID + DD, P= 0.03). Concerning different BC prognostic models, the poor prognostic one of Her2 enriched model (ER-ve PR-ve Her2+ve) show significant association in ACE genotype ID and dominant model (II vs ID + DD), (P= 0.01) when compared to the good prognostic hormonal status.

Conclusion: It seems that this is the first study that interested in correlate the ACE gene polymorphisms in different BC variants characters in Egyptian patients. ACE I/D (rs1799752) polymorphism ID genotype have strong association to breast cancer carcinogenesis, poor prognosis and metastasis. It may be used as practical biomarker to guide the BC carcinogenesis and risk process.