Detection of oncogenic mutations in cervical carcinoma using method High Resolution Melting (HRM)

Area of Science:

• Oncology
• Molecular Biology
• Genetics

Background:

• Oncogenic mutations in proto-oncogenes and tumor suppressor genes are key events in cancerogenesis.
• Cervical carcinoma pathogenesis involves genetic alterations, including mutations in key genes.

Purpose of the Study:

• To analyze the mutation status of PIK3CA, KRAS, EGFR proto-oncogenes, and the TP53 tumor suppressor gene in cervical cancer patients.
• To investigate the correlation of these mutations with clinicopathological features and HPV status.

Main Methods:

• Screening using High Resolution Melting (HRM) analysis.
• Confirmation and identification of mutations by Sanger sequencing.
• Analysis of hTERC gene amplification and copy-number alterations using array-CGH.

Main Results:

• DNA sequence changes were detected in 29.2% (7/24) of patients.
• PIK3CA mutations were found in 16.7% (4/24) of patients, with four confirmed oncogenic mutations.
• KRAS sequence changes were detected in 16.7% (4/24) of patients. No pathogenic changes were found in EGFR or TP53.
• Mutations were independent of histological subtype, clinical stage, lymph node involvement, and HPV status.
• A correlation was observed between DNA sequence changes and hTERC gene amplification, but not with array-CGH detected alterations.

Conclusions:

• PIK3CA and KRAS gene mutations play a significant role in cervical carcinoma pathogenesis.
• These mutations are present in early clinical stages and may serve as diagnostic markers.
• Further research is needed to understand these mutations and their diagnostic potential.