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Genetics of Colorectal Cancer (PDQ®)

Health Professional Version
Last Modified: 02/14/2014

Changes to This Summary (02/14/2014)

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.


Updated statistics with estimated new colorectal cancer cases and deaths for 2014 (cited American Cancer Society as reference 1).

Major Genetic Syndromes

Added text to state that 50% of women with a mismatch repair gene mutation will present with endometrial cancer as their first malignancy (cited Lu et al. as reference 229).

Revised text to state that the lifetime risk of endometrial cancer has been estmated to be from 44% in MLH1 mutation carriers to 71% in MSH2 mutation carriers. Also added text about a study that showed that women with loss of MSH2 protein expression caused by an EPCAM mutation are also at risk of endometrial cancer (cited Kempers et al. as reference 231). Also added text about a study of women with Lynch syndrome (LS) who had endometrial cancer as their index cancer and were found to be at significantly increased risk of other cancers (cited Win et al. as reference 232).

Added text to state that three cases of endometrial cancer arising from endometriosis in women with LS have been reported (cited Garg et al. as reference 234).

Added text to state that a subsequent study demonstrated that women with MSH2 protein expression loss caused by EPCAM mutations are also at risk of endometrial cancer.

Added text to state that in contrast with early data indicating no increased risk of endometrial cancer, a 2011 study suggests that there may be an increased risk in patients with EPCAM mutations.

The Surgical management in LS subsection was comprehensively reviewed and extensively revised.

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.