Molecular diagnostics in colorectal carcinoma

Amarpreet Bhalla, Muhammad Zulfiqar, Michael Weindel, Vinod B. Shidham

Research output: Contribution to journalReview articlepeer-review

19 Scopus citations


Molecular pathogenesis and classification of colorectal carcinoma are based on the adenoma-carcinoma sequence in the Vogelstein model, serrated polyp pathway, and microsatellite instability. The genetic basis for hereditary nonpolyposis colorectal cancer is based on detection of genetic mutations. Genetic testing for Lynch syndrome includes microsatellite instability, methylator phenotyping, BRAF mutation, and molecular testing. Molecular makers include quantitative multigene reverse transcriptase-polymerase chain reaction assay and KRAS and BRAF mutation analysis. Potential biomarkers include one-step nucleic acid amplification and epigenetic inactivation of endothelin 2 and endothelin 3 in colon cancer. Molecular screening approaches in colorectal cancer using stool DNA are under investigation.

Original languageEnglish (US)
Pages (from-to)835-859
Number of pages25
JournalClinics in Laboratory Medicine
Issue number4
StatePublished - Dec 2013
Externally publishedYes


  • Chromosomal instability
  • CpG island methylator phenotype
  • Methylator phenotype
  • Microsatellite instability

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


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