Assessment of exonic polymorphism of IDH2, KRAS1, TP53, and BRAF2 using PCR-RFLP in hepatocellular carcinoma: a case-control study from Arunachal Pradesh and Sikkim.

INTRODUCTION: The primary liver cancer of greatest concern is hepatocellular carcinoma (HCC). It covers almost 80% of liver cancer in the global population, and in the next two decades, it is expected to increase by 15%. The biomarker-based study has therapeutic potential to enhance therapy responses for HCC.

AIM: Thus, the present study investigates genetic polymorphisms in key genes from HCC patients in Arunachal Pradesh and Sikkim, India, where regional and ethnic variation possibly establishes the pattern of mutations.

METHODS: Hence, we used an in-house structured questionnaire to collect demographic and clinical information. Blood samples were collected from 222 individual patients and those of healthy controls. After sample collection, Genomic DNA was extracted from the whole blood sample for amplification of the key gene region, and PCR-RFLP was followed by Sanger sequencing.

RESULTS: Subsequently, the demographic and clinical findings thus highlight that older age, lower educational level, higher exposure to tobacco, and metabolic and alcohol-related comorbidity collectively designate the case population. Additionally, base-level confirmation for KRAS1 (exon 2) and IDH2 (exon 4) through Sanger sequencing, which verified the range of PCR-RFLP-detected mutations.

CONCLUSION: Our findings in the genetic landscape highlight the complexity of hepatocarcinogenesis but also point to potential therapeutic exploitation.