Molecular pathways in colorectal cancer

Sam Al-Sohaily*, Andrew Biankin, Rupert Leong, Maija Kohonen-Corish, Janindra Warusavitarne

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

140 Citations (Scopus)


Colorectal cancer (CRC) is the second most common newly diagnosed cancer and accounts for the second highest number of cancer related deaths in Australia, the third worldwide and of increasing importance in Asia. It arises through cumulative effects of inherited genetic predispositions and environmental factors. Genomic instability is an integral part in the transformation of normal colonic or rectal mucosa into carcinoma. Three molecular pathways have been identified: these are the chromosomal instability (CIN), the microsatellite instability (MSI), and the CpG Island Methylator Phenotype (CIMP) pathways. These pathways are not mutually exclusive, with some tumors exhibiting features of multiple pathways. Germline mutations are responsible for hereditary CRC syndromes (accounting for less than 5% of all CRC) while a stepwise accumulation of genetic and epigenetic alterations results in sporadic CRC. This review aims to discuss the genetic basis of hereditary CRC and the different pathways involved in the process of colorectal carcinogenesis.

Original languageEnglish
Pages (from-to)1423-1431
Number of pages9
JournalJournal of Gastroenterology and Hepatology (Australia)
Issue number9
Publication statusPublished - 2012
Externally publishedYes


  • Chromosomal instability
  • Colorectal cancer
  • CpG Island Methylator Phenotype
  • Microsatellite instability
  • Molecular pathways


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