ANALYZING S100A10 AND SRD GENE COPY NUMBER VARIATIONS IN BREAST CANCER AND PRECANCEROUS LESIONS: IMPLICATIONS FOR ATHLETE HEALTH MONITORING

Abstract

Objective: This study aims to explore the copy number variations of the S100A10 gene on 1q21.3 and the SRD gene on 1p36.3 across different stages of breast disease progression—from hyperplasia to invasive carcinoma—with a focus on implications for early diagnosis in athletes. Methods: Wax block specimens from 60 patients diagnosed with breast hyperplasia, carcinoma in situ, or invasive carcinoma were analyzed. The copy numbers of the S100A10 and SRD genes in each breast tissue type were assessed using fluorescence in situ hybridization. Statistical significance was determined through a nonparametric rank test of independent samples, with a P-value <0.05 considered significant. Results: The S100A10 gene displayed a progressive increase in copy number from breast hyperplasia (mean: 1.95) to carcinoma in situ (mean: 2.51) and invasive carcinoma (mean: 3.29), with statistically significant differences between each group. Conversely, the SRD gene showed a stable copy number in hyperplasia and carcinoma in situ but a significant decrease in invasive carcinoma (mean: 1.76). The deletion of the SRD gene was predominantly observed in invasive breast cancer cases. Conclusion: Monitoring the copy number changes of the S100A10 and SRD genes could enhance the diagnostic precision for breast disease progression, particularly in athletes who require timely intervention to maintain optimal health and performance levels. This combined genetic screening could serve as a valuable tool in the proactive health management strategies for athlete populations, aiding in early detection and potentially improving outcomes in breast-related diseases.