Changes to This Summary (10/25/2013)
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.
The PTEN hamartoma tumor syndromes (including Cowden syndrome) subsection was renamed from Cowden syndrome.
Added text to state that PTEN mutations have been identified in patients with very diverse clinical phenotypes and that the term PTEN hamartoma tumor syndromes refers to any patient with a PTEN mutation, irrespective of clinical presentation (cited Mester et al. as reference 426).
Added text to state that SMAD4 mutations are quite rare in patients with hereditary hemorrhagic telangiectasia (HHT) (cited Lesca et al. as reference 457). Also revised text to state that features of HHT were noted in 21% to 22% of SMAD4 mutation carriers in two studies of individuals with a clinical diagnosis of juvenile polyposis syndrome.
Added text to state that there are no established guidelines for colorectal cancer screening in individuals with CHEK2 mutations.
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.