Significance of Serum Survivin and-31G/C Gene Polymorphism in the Early Diagnosis of Breast Cancer in Egypt

The majority of breast cancer cases are discovered in later disease stages, thus affecting survival rate. We studied the impact of survivin -31 G/C single nucleotide polymorphism and its serum level alteration. Minor allele C and the GC + CC genotype occurred more frequently in breast cancer patients; further, increased breast cancer risk with associated with elevated serum survivin level. These data could help in early diagnosis and understanding of the pathogenesis of breast cancer. Background: Breast cancer is one of the most relevant malignancies among women. Molecular abnormalities in promotor region of survivin gene may account for overexpression of survivin and increased breast cancer risk. This study aimed to explore the potential association between survivin promotor gene -31 G/C single nucleotide polymorphism (rs9904341) and its serum level alteration on one hand, and the risk of breast cancer in Egyptian patients on the other hand. It also aimed to assess the usefulness of survivin as an early noninvasive diagnostic biomarker and in breast cancer staging. Patients and Methods: A total of 135 patients with physically and pathologically confirmed breast cancer and 40 unrelated control subjects as well as 40 patients with benign breast mass were recruited from the early detection unit at National Cancer Institute, Cairo University. Genotyping was performed using allelic discrimination probes by real-time quantitative PCR and serum survivin by enzyme-linked immunosorbent assay. Results: The minor allele C of -31G/C survivin single nucleotide polymorphism was more frequent in breast cancer patients (19.3%) compared to the control group (7.5%). Furthermore, subjects with the GC + CC genotype were at increased risk of breast cancer compared to the GG genotype of the control group and also the benign group. Moreover, those patients exhibited higher serum levels of survivin compared to GG genotype. There was also significant elevation of serum survivin in different breast cancer stages. Conclusion: Genetic variation in -31G/C of the survivin gene may contribute to the disposition of breast cancer in the Egyptian population. Serum survivin alteration played a pivotal role in the pathogenesis of breast cancer. (C) 2019 Elsevier Inc. All rights reserved.