Abstract:
Hepatic cirrhosis and Hepatocellular carcinoma (HCC) significantly contribute to the
global disease burden and mortality rates. Amid the diversity of characteristics intricate the
expanding frequency of cancer of the liver cells, its late diagnosis and difficulty in
discrepancy flanked by late-stage cirrhosis from initial stages of HCC are the major ones.
It necessitates facilitating diagnostic tests for earlier diagnosis of HCC and the ability to
predict its progression from underlying cirrhosis. Several blood-based biomarkers and
single nucleotide polymorphisms of many genes have been proposed to detect HCC at its
early stages in recent years, such as AFP is an already reported blood-based biomarker.
DNA from blood samples of 150 patients and 50 controls was extracted and processed by
using SNP specified polymerase chain reaction then sequencing PCR to perform SNP
specified sequencing. Analysis of sequencing data showed that the single nucleotide
polymorphism of PTEN (rs1234220) and XRCC1(codon280) is present in the study
samples. In case of PTEN (rs1234220), normal genotype AA was prevalent among controls
whereas AG genotype was prevalent among patient samples. Analysis of sequencing data
of XRCC1 showed that there was no normal genotype present, all samples including
healthy controls have mutated forms among them AG was more prevalent in all samples
whereas TG and then GG was less prevalent. It gives the idea that if these SNPs are detected
earlier, the prognosis of HCC will be improved as both of them are reported to be associated
with higher risks of cancer of liver cells
