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journal homepage: www.elsevier.com/locate/genrep
Amanuel Tsegai Gebreslasiea,b, Areeg Faggadc, , Hani Yousif Zakib, Badreldin Elsonni Abdallab
a Department of Biochemistry, Orotta School of Medicine and Dentistry, Eritrea
b Department of Biochemistry and Nutrition, Faculty of Medicine, University of Gezira, Sudan
c Department of Molecular Biology, National Cancer Institute (NCI-UG), University of Gezira, Sudan
Single nucleotide polymorphisms (SNP)
ESR1 encodes Angeli’s Salt receptor alpha, which mediates estrogen action. Estrogen exposure is a central risk for breast cancer (BC); therefore, ESR1 variants are likely to aﬀect BC susceptibility. We evaluated the association of ESR1 rs3020314 and rs1514348 with BC among Sudanese women, and correlated genotype with BC risk factors and clinicopathologic features. A total of 144 women were recruited in this case-control study (71 women with BC, and 73 healthy controls). ESR1 rs3020314 and rs1643821 –a proxy SNP for rs1514348–were genotyped using PCR-RFLP.
Genotype frequencies diﬀered significantly between cases and controls. For rs3020314, women carrying the heterozygous genotype CT had increased BC risk (OR: 2.67; 95%CI: 1.19–6.01; p = 0.02). Conversely, for rs1643821 women with the heterozygous genotype CT showed a decreased BC risk (OR: 0.41, 95%CI: 0.19–0.89; p = 0.02). Allele frequencies were not diﬀerent between the two groups. In the subgroups of BMI ≥ 25 kg/m2 likewise postmenopausal women, patients carrying the rs3020314 genotype CT had 7-times and 6-times BC risk than controls, respectively. There was no association between genotype and clinicopathologic features.
Our data suggest that ESR1 rs3020314 and rs1514348 might modify BC risk in Sudanese women. However, these findings need further testing in a larger number of patients.
Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer death among women worldwide with 24.2% (2.1 million) of the total new cancer cases and 15.0% (627 thousand) of the total cancer-related deaths in 2018 (Ferlay et al., 2018). The burden of breast cancer is growing in less developed countries accounting for about one-half of all breast cancer cases and 62% of deaths (Jemal et al., 2011). Breast cancer is currently the most commonly diagnosed cancer in women in several Sub-Saharan African countries, this could be due to increases in the prevalence of risk factors for breast cancer such as early menarche, late childbearing, lower parity, and obesity, besides increased awareness and detection (Jemal et al., 2012). Similar to global and African cancer incidence, breast cancer remains to be the most commonly diagnosed cancer in women in Sudan, accounting for
The etiology of breast cancer is multifactorial with an interaction between genetic and environmental factors. Risk factors for develop-ment of breast cancer can be largely classified into hormonal and non-hormonal risk factors (Martin and Weber, 2000). Among the hormonal influences, estrogen exposure has been identified as a central factor in the pathogenesis and progression of breast cancer; the increased risk of breast cancer associated with early menarche, late menopause, reduced parity, later maternal age of first live birth and obesity is attributed to prolonged exposure to endogenous estrogen (Dumitrescu and Cotarla, 2005).