Colorectal cancer

Document Type

Journal Article

Publication Date



Molecular Pathology in Clinical Practice:Second Edition




BRAF mutation; Colorectal cancer; Microsatellite instability; Mutation detection assays; Mutation testing recommendations; RAS mutation; Targeted therapy


© Springer International Publishing Switzerland 2016. All rights reserved. Molecular testing of colorectal cancer (CRC) has become the standard practice in the management of patients who are candidates for chemotherapy and geneor pathway-targeted therapies, providing critical information for precision therapy. Current and emerging testing approaches and guidelines used to select EGFR pathway-targeted therapies for CRC are reviewed, as well as the use of DNA mismatch repair deficiency testing in CRC for identification of patients who might not benefit from conventional therapies containing 5-fluorouracil (5FU). Recent recommendations for extended RAS mutation testing encompassing exons 2, 3, and 4 of KRAS and NRAS in CRC are highlighted. An overview of laboratory considerations includes the critical role of tumor tissue evaluation by pathologists, in order to select the best areas of tumor for testing. In addition to a number of conventional testing platforms, given the increasing number of gene mutations that may be critical to achieve targeted therapy efficacy in CRC, advances in the use of gene panels for mutation analysis with platforms that permit detection of hundreds of mutations in a single sample, such as next-generation sequencing (NGS) gene panels, are described.

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