Colorectal cancer (CRC) is the third most common type of cancer, and it is the second most common cause of cancer related deaths. This review is aimed to bring about the latest updates on genes associated, hereditary links, molecular pathogenesis, risk factors, biomarkers and diagnosis of CRC. Hereditary Non-Polyposis CRC (HNPCC) accounted for 5-10% of colon cancers, and it had shown an autosomal dominant inheritance pattern. The associated molecular defect was a DNA mismatch repair, targeting the MSH2 and MSH6 genes on chromosome 2 and MLH1 on chromosome 3 genes. Two distinct pathways had been established in the pathogenesis of CRC, the APC/β-catenin pathway, and the microsatellite instability pathway. Our research showed that the important genes involved in the development of CRC were MSH2, MSH6, MLH1 and APC genes. Between 12 to 35% CRC was estimated to be hereditary, whereas germline mutations contribute less than 5% to CRC. Two distinct pathways have been established in the pathogenesis of CRC, the APC/β-catenin pathway, and the microsatellite instability pathway. Both environmental and genetic factors contribute to the development of CRC. Six potential biomarkers for CRC were identified, they were, “anserine”, “trimethylamine N-oxide”, “arginine”, “gamma-glutamyl-gamma-aminobutyraldehyde”, “indoxyl sulfate” and “pyridoxal 5-phosphate”. The significance of the results include, early detection of virulent genes, oncogene, and biomarkers can assist in the early diagnosis of CRC. There are several therapeutic strategies available for CRC, but due to the aggressiveness and late diagnosis of patients with CRC, often makes the treatment less significant.
Key words: colorectal cancer; genes; mutation; molecular pathogenesis; risk factors; biomarkers
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