Molecular Diagnostics in Colorectal Carcinoma: Advances and Applications for 2018

Clinics in Laboratory Medicine
Amarpreet BhallaMartin H Bluth

Abstract

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.

Citations

Nov 25, 2018·International Journal of Molecular Sciences·Ovidiu BalacescuAlexandru Irimie
Sep 25, 2020·Clinics in Colon and Rectal Surgery·Martina NebbiaAntonino Spinelli
Dec 13, 2019·Frontiers in Oncology·Bruno Augusto Alves MartinsAline Maria Araújo Martins
Dec 13, 2019·ANZ Journal of Surgery·Steven R ParedesMatthew J F X Rickard
Oct 26, 2018·World Journal of Gastroenterology : WJG·Gabriela Helena Rodrigues-FlemingEny Maria Goloni-Bertollo
Jan 16, 2022·Autoimmunity Reviews·Désirée SexauerPauline Zaenker

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