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Genetics of Colorectal Cancer (PDQ®)

  • Last Modified: 10/10/2014

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Changes to This Summary (10/10/2014)

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.

Major Genetic Syndromes

Added text about EPCAM testing to Table 11, Practice Guidelines for Diagnosis and Colon Surveillance of Lynch Syndrome.

Added text to state that the genetic etiology of familial colorectal cancer type X (FCCX) remains unclear; utilizing whole-genome linkage analysis and exome sequencing, a truncating mutation in RPS20 was identified in four individuals with colorectal cancer from a FCCX family (cited 2014 Nieminen et al. as reference 444); the same group had previously identified variants in the BMPR1A gene in affected individuals from 2 of 18 families with FCCX (cited 2011 Nieminen et al. as reference 445). Also added that additional studies are necessary to definitively confirm or refute a role for RPS20 or BMPR1A in FCCX.

The PTEN hamartoma tumor syndromes (including Cowden syndrome) subsection was comprehensively reviewed and extensively revised.

Added text to state that females with Peutz-Jeghers syndrome (PJS) are predisposed to the development of cervical adenoma malignum, a rare and very aggressive adenocarcinoma of the cervix (cited Srivatsa et al. as reference 471). Also added text to state that females with PJS commonly develop benign ovarian sex-cord tumors with annular tubules, whereas males with PJS are predisposed to development of Sertoli-cell testicular tumors; although neither of these two tumor types is malignant, they can cause symptoms related to increased estrogen production (cited Scully as reference 472).

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.