Molecular Diagnostics in Colorectal Carcinoma: Advances and Applications for 2018

Clin Lab Med. 2018 Jun;38(2):311-342. doi: 10.1016/j.cll.2018.02.008.


The molecular pathogenesis and classification of colorectal carcinoma are based on the traditional adenomaecarcinoma sequence, serrated polyp pathway, and microsatellite instability (MSI). The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Genetic testing for Lynch syndrome includes MSI testing, methylator phenotype testing, BRAF mutation testing, and molecular testing for germline mutations in MMR genes. Molecular makers with predictive and prognostic implications include quantitative multigene reverse transcriptase polymerase chain reaction assay and KRAS and BRAF mutation analysis. Mismatch repair-deficient tumors have higher rates of programmed death-ligand 1 expression. Cell-free DNA analysis in fluids are proving beneficial for diagnosis and prognosis in these disease states towards effective patient management.

Keywords: BRAF; Colorectal carcinoma; CpG island methylator phenotype; KRAS; Serrated polyp pathway.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Colorectal Neoplasms* / diagnosis
  • Colorectal Neoplasms* / genetics
  • CpG Islands / genetics
  • Humans
  • Molecular Diagnostic Techniques*


  • Biomarkers, Tumor