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

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Changes to This Summary (02/15/2018)

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.

Major Genetic Syndromes

Added text about a study that identified adrenal lesions in 26% of patients with familial adenomatous polyposis (FAP), 18% of patients with attenuated FAP (AFAP), and 21% of patients with MUTYH-associated polyposis. Most lesions in this series followed a benign and slowly progressive course; no cases of adrenocortical carcinoma (ACC) were reported (cited Kallenberg et al. as reference 118).

Added Ricci et al. as reference 221.

Added text about a study of 863 families with colorectal cancer (CRC) and 1,600 families without CRC that confirmed an association between NTHL1 pathogenic variants and inherited CRC risk (cited Broderick et al. as reference 228).

Added text to state that hereditary mixed polyposis, characterized by histology that often includes adenomatous and hyperplastic polyps, has been associated with GREM1pathogenic variants in a small number of Ashkenazi Jewish families. Polyp number in this syndrome is highly variable but is often in the spectrum consistent with oligopolyposis.

The Biallelic mismatch repair deficiency (BMMRD) subsection of the Genetics of Lynch syndrome section was renamed from Constitutional mismatch repair deficiency (CMMRD).

The BMMRD subsection of the Prevalence, clinical manifestations, and cancer risks associated with Lynch syndrome section was renamed from CMMRD.

Updated National Comprehensive Cancer Network as reference 544.

Added text about the GREM1 pathogenic variants that have been described in families of Ashkenazi Jewish ancestry, including the varying clinical presentations and necessary comprehensive variant testing in this population (cited Lieberman et al. as reference 598).

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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