Abstract
In sub-Saharan Africa, breast cancer (BC) constitutes a serious public health problem and the genetic basis of its development is remaining poorly understood. Although the SNPs at codon 72 of TP53 (rs1042522) and at the UTR of SET8 (rs16917496) have both been associated with BC development among Asian and European women, no published data has been reported within African population. We herein report on the impact of these polymorphisms on the risk of BC among Cameroonian women. Blood samples were collected from 111 breast cancer patients and 224 controls. DNA was extracted from each sample and PCR-RFLP was used to investigate the polymorphisms at SNPs rs1042522 of TP53 and rs16917496 of SET8. Association studies were performed according to ethno-linguistic groups and menopausal status. The minor allele “T” of SET8 gene revealed a protective effect in premenopausal women (OR, 0.327; 95% CI 0.125 - 0.852) while the CT genotype of SET8 was associated with increased risk of BC (OR, 2.93; 95% CI, 1.1 - 7.8). The minor “G” allele of TP53 gene was significantly associated (OR, 2.533; 95% CI, 1.455 - 4.408) with increased disease risk in premenopausal women while the CG genotype was significantly associated (OR, 0.39; 95% CI, 0.23 - 0.69) with decreased risk of BC. A synergistic genetic interaction at both loci for CC genotype of SET8 and CG genotype of TP53 was associated (OR, 0.46; 95% CI, 0.24 - 0.91) with reduced disease risk. No significant association between polymorphisms at the SET8 and TP53 loci and clinical pathologic features of BC was observed. This study suggests significant associations between the SNPs located at the 3’-UTR of SET8 and codon 72 of the TP53 with the risk of breast cancer development among premenopausal women. There is an interaction between TP53 and SET8 genes.
Highlights
Breast cancer (BC) is the most predominant cancer in women worldwide with about 2.2 million new cases diagnosed in 2018 [1]
The single-nucleotide polymorphisms (SNPs) at codon 72 of TP53 and at the UTR of SET8 have both been associated with BC development among Asian and European women, no published data has been reported within African population
The minor allele “T” of SET8 gene revealed a protective effect in premenopausal women (OR, 0.327; 95% confidence intervals (CI) 0.125 - 0.852) while the CT genotype of SET8 was associated with increased risk of BC (OR, 2.93; 95% CI, 1.1 - 7.8)
Summary
Breast cancer (BC) is the most predominant cancer in women worldwide with about 2.2 million new cases diagnosed in 2018 [1]. The incidence of BC is relatively low in developing countries, the mortality rates are very high. Enormous efforts have been undertaken to better understand BC etiology, several aspects remain underexplored, especially in sub-Saharan Africa where the disease is characterized by different epidemiological features. About 53,917 new breast cancer cases have been reported in North Africa, more than 114,707 new cases have been recorded in sub-Saharan Africa [1]. Amongst young women of 15 to 49 years, the incidence of breast cancer in North Africa is lower than in sub-Saharan African countries [1]. Women of Sub-Saharan African region have a higher risk for early-onset, high-grade, node-positive and hormone receptor-negative disease [6]. In the light of the foregoing, polymorphism at some specific genetic markers such as single-nucleotide polymorphisms (SNPs) have been postulated to explain the differences in BC outcome based on the race and/or ethnicity [10] [11] [12]
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