Oncogenic impact of PIK3CA, KRAS, and PTEN mutations in cervical cancer among South Indian women

BACKGROUND: Cervical cancer (CC) affects millions of women worldwide. This condition is strongly associated with human papillomavirus (HPV) infection. Oncogenic alterations are known to contribute to the development and progression of CC. OBJECTIVES: This study aimed to screen for variations in selected genes associated with CC, including PIK3CA, KRAS, and PTEN, and to detect high-risk HPV genotypes 16, 18, 31, 45, 52, and 58 using gene-specific polymerase chain reaction (PCR), followed by single-strand conformation polymorphism (SSCP) analysis and confirmation using bidirectional DNA sequencing. MATERIAL AND METHODS: The study included 414 participants, comprising 204 cases and 210 controls. Healthy controls were disease-free individuals participating in regular health checkups. Selected gene mutations were analyzed using PCR-based assays, SSCP, and sequence analysis. HPV genotyping was also performed. RESULTS: All study participants were analyzed for mutations in the PIK3CA, KRAS, and PTEN genes. The analysis revealed mutation frequencies of 6.37% for KRAS, 2.45% for PTEN, and 16.66% for PIK3CA in CC cases. These findings suggest that PIK3CA and KRAS mutations are more frequent in patients with CC than PTEN mutations. HPV infection was detected in 87.10% of patients with CC, 79.24% of participants with high-grade squamous intraepithelial lesions (HSIL), and 60.34% of participants with low-grade squamous intraepithelial lesions (LSIL). This study contributes to understanding the genetic basis of CC in South India and may facilitate the development of future targeted therapies. CONCLUSIONS: The high prevalence of HPV underscores its etiological significance in CC. These findings contribute to a deeper understanding of the molecular mechanisms underlying CC in this population and may support the development of targeted therapeutic strategies for high-risk individuals. Future prospective studies and functional analyses are warranted to validate the clinical significance of these mutations and clarify their role in disease progression.