Molecular Diagnostics in Colorectal Carcinoma: Advances and Applications for 2018

Amarpreet Bhalla, Muhammad Zulfiqar, Martin H. Bluth

Research output: Contribution to journalReview articlepeer-review

22 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)311-342
Number of pages32
JournalClinics in Laboratory Medicine
Issue number2
StatePublished - Jun 2018
Externally publishedYes


  • BRAF
  • Colorectal carcinoma
  • CpG island methylator phenotype
  • KRAS
  • Serrated polyp pathway

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


Dive into the research topics of 'Molecular Diagnostics in Colorectal Carcinoma: Advances and Applications for 2018'. Together they form a unique fingerprint.

Cite this