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Review
. 2013 Dec;33(4):835-59.
doi: 10.1016/j.cll.2013.10.001.

Molecular diagnostics in colorectal carcinoma

Amarpreet Bhalla  1 , Muhammad Zulfiqar, Michael Weindel, Vinod B Shidham
Affiliations
Review

Molecular diagnostics in colorectal carcinoma

Amarpreet Bhalla et al. Clin Lab Med. 2013 Dec.

Abstract

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.

Keywords: Chromosomal instability; CpG island methylator phenotype; Methylator phenotype; Microsatellite instability.

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