Genetics of Colorectal Cancer (PDQ®)–Health Professional Version

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Changes to This Summary (05/19/2016)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Introduction

Added Mork et al. as reference 49.

Added text to state that the American College of Medical Genetics and Genomics has published guidelines for evaluating patients with suspected colon cancer susceptibility syndromes (cited Hampel et al. as reference 63); the guidelines aim to identify individuals whose clinical features warrant referral for genetics consultation.

Major Genetic Syndromes

Added text about a study that confirmed that POLE mutations are a rare cause of oligopolyposis and early-onset colorectal cancer (CRC). All individuals in the study were negative for germline mutations in APC, MYH, and the mismatch repair (MMR) genes; thePOLE variant L424V was found in 3 of 485 index cases with colorectal polyposis and early-onset CRC (cited Elsayed et al. as reference 227).

Added Cost-effectiveness of genetic testing as a new subsection.

Added text about a 2015 survey of 1,858 participants in the Colon Cancer Family Registry that suggested that aspirin and ibuprofen might be chemopreventive for MMR gene mutation carriers (cited Ait Ouakrim et al. as reference 414).

Added text to state that a predictive model is available that uses clinical criteria to estimate the probability of a PTEN mutation; a cost-effectiveness analysis suggests that germlinePTEN testing is cost effective if the probability of a mutation is greater than 10% (cited Ngeow et al. as reference 492).

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

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