Involvement of INF-γ functional single nucleotide polymorphism +874T/A (rs2430561) in breast cancer risk.

Hanan E Al-Rashidi,Sahar Hamed,Sherif Refaat,Fatma M Eltantawy,Enas Ahmed,Dalia T Hussein

doi:10.1016/j.sjbs.2021.06.083

Abstract

According Global Cancer Statistics 2020 GLOBOCAN estimates female breast cancer was found as the most commonly diagnosed cancer, with an estimated 2.3 million new cases (11.7%), and the fourth leading cause (6.9%) of cancer death among women worldwide. Identification of new diagnostic marker sharply characterize the tumor feature is intensive need. The present work was performed to investigate the involvement of the INF-γ + 874 T/A gene polymorphism in different breast cancer prognostic factors. Polymorphism detection analysis was performed on 163 subjects from breast cancer patients, 79 with inflamed cells of breast patients and 144 controls. The gene polymorphism was detected using the amplification refractory mutation system- polymerase chain reaction method (ARMS-PCR). The distribution of INF-γ T + 874A gene polymorphism shows strong significant association between INF-γ + 874 T/A genotypes TT in BC patients (ORTT: 6.41 [95% CI = 2.72–15.1] P < 0.0001) as well as strong significant association regarding T allele (ORT: 1.99 [95% CI = 1.43–2.76] P < 0.0001) when compared to the healthy control. In ICB group the strong association was noted with INF-γ + 874 T/A genotypes AT genotype (ORAT: 2.28 [95% CI = 1.22–4.29] P = 0.007). From the different histological BC hormonal markers the human epidermal growth factor receptor 2 (HER2) was showing significant association in INF-γ + 874 T/A genotypes TT (P = 0.03) and recessive model (TT versus AA + AT P = 0.03). Concerning different BC prognostic models, the poor prognostic one of luminal B, (ER+ve PR+ve Her2+ve) show significant association in the host INF-γ + 874 T/A genotype (TT, P = 0.03) and recessive model (TT versus AA + AT P = 0.02) when compared to the good prognostic hormonal status luminal A model, (ER+ve PR+ve Her2-ve). It seems that this is the first study that interested in correlate the INF-γ + 874 T/A gene polymorphisms in Egyptian BC patients. T allele, TT genotype and recessive model of the INF-γ + 874 T/A gene variants were documented as risk factors for BC pathogenesis. It may be used as practical biomarker to guide the BC carcinogenesis and risk process.

Highlights

Hanan E Al-Rashidi a, Sherif Refaat b, Enas Ahmed c, Dalia T Hussein d, Fatma M Eltantawy e, Sahar Hamed e,⇑
It may be used as practical biomarker to guide the Breast cancer (BC) carcinogenesis and risk process
Results show in (Table 1), pointed out the different genetic models which revealed in the host INF-c + 874 (TT + AT genotypes) versus those with the AA genotype revealed strong significant association with BC group (P < 0.0001) and significant association with inflamed cells of breast group (ICB) group (P = 0.01) total number of cases in comparison with their respective controls and no significant association between BC and ICB groups (P = 0.43), [Odds ratios (OR) were 2.6 (1.57–4.3), 2.15 (1.15–4.02) and 0.83 (0.43–1.58), respectively]

Summary

Introduction

Hanan E Al-Rashidi a, Sherif Refaat b, Enas Ahmed c, Dalia T Hussein d, Fatma M Eltantawy e, Sahar Hamed e,⇑. The present work was performed to investigate the involvement of the INF-c + 874 T/A gene polymorphism in different breast cancer prognostic factors. From the different histological BC hormonal markers the human epidermal growth factor receptor 2 (HER2) was showing significant association in INF-c. T allele, TT genotype and recessive model of the INF-c + 874 T/A gene variants were documented as risk factors for BC pathogenesis. It may be used as practical biomarker to guide the BC carcinogenesis and risk process.

Objectives

Methods

Results

Discussion

Conclusion