Association between VEGF gene polymorphisms and breast cancer risk

Abstract

Introduction: Breast cancer (BC) poses a significant global health challenge. In Sudan, the absence of a national cancer registry has resulted in an underestimation of BC incidence. BC is notably the most common cancer among Sudanese women, especially affecting those under 50, with many cases diagnosed at advanced stages. Angiogenesis, driven by vascular endothelial growth factor (VEGF), plays a critical role in the progression and recurrence of BC. This study examines the relationship between the VEGF (rs699947) gene polymorphism and BC among Sudanese women in Khartoum State in 2022. Methodology: A case-control study was conducted with 30 BC patients, and tissue samples were collected for molecular analysis. DNA was extracted and genotyped for the VEGF (rs699947) polymorphism using allele-specific PCR.

Results: No statistically significant association was found between the VEGF-2578 C > A polymorphism and BC risk in our study population. Although the A allele was more prevalent in tumor tissues compared to normal tissues, with no significant correlation with tumor stage or grade. The study revealed that BC in Sudanese women often presents at younger ages and is predominantly invasive ductal carcinoma, with stage II being the most common.

Conclusion: These findings emphasize the necessity for continued research to explore additional genetic factors and improve our understanding of BC and associated risks. Advancing early detection and prevention methods is vital, particularly for underrepresented populations. However, the small sample size in this study may limit the statistical power to detect significant associations, and thus, findings should be interpreted with caution.

Fig. 1

Demographic Characteristics of the Study Population. a) Age distribution of patients in percentage across defined age groups. b) Ethnic distribution showing the proportion of Afroasiatic and Nilosaharan groups. c) Family history of disease among patients, with 37 % reporting a positive family history.

Fig. 2

Histopathological characteristics of breast tumors. a) Tumor type distribution: invasive ductal carcinoma (IDC) and invasive lobular carcinoma (ILC). b) Tumor grades: most tumors were Grade II. c) Tumor stages, with Stage II being most prevalent.

Fig. 3

VEGF Genotyping Results. (a Genomic DNA extracted from normal and tumor tissues (lanes 1–12). b) Allele specific PCR gel showing VEGF rs699947 genotypes using wild-type and mutant-specific primers, lane M represents the molecular marker (100 bp DNA Ladder, INTRON). c) Distribution of genotypes across cancer stages. d) Distribution of genotypes across cancer grades. Note: All amplicons are approximately 295–300 bp in size; genotype determination was based on allele-specific primer amplification patterns, not on band size differences.