title: Molecular diagnostics in colorectal carcinoma.
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.
authors.affiliation: Pathology Department, Harper University Hospital, Detroit Medical Center, Wayne State University School of Medicine, 3990 John R Street, Detroit, MI 48201, USA.
authors.forename: Amarpreet
authors.initials: A
authors.lastname: Bhalla
authors.forename: Muhammad
authors.initials: M
authors.lastname: Zulfiqar
authors.forename: Michael
authors.initials: M
authors.lastname: Weindel
authors.forename: Vinod B
authors.initials: VB
authors.lastname: Shidham
mesh_terms: D015415:Biomarkers; D015179:Colorectal Neoplasms / Q000175:diagnosis*; D006801:Humans; D025202:Molecular Diagnostic Techniques
chemical_list: D015415:Biomarkers
keywords: Chromosomal instability; CpG island methylator phenotype; Methylator phenotype; Microsatellite instability