Changes to This Summary (02/08/2013)
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.
Added text to state that several sets of clinical diagnostic criteria for basal cell nevus syndrome (BCNS) are in use (cited Evans et al. and Veenstra-Knol et al. as references 66 and 68, respectively). Also added text to state that although each set of criteria has advantages and disadvantages, none of the sets have a clearly superior balance of sensitivity and specificity for identifying mutation carriers; PTCH1 mutations are found in 60% to 85% of patients who meet clinical criteria (cited Klein et al. as reference 69).
Added Table 1, Comparison of Diagnostic Criteria for BCNS.
Added text about a 9p22.3 microdeletion syndrome that includes the PTCH1 locus that has been described in ten children, all of whom had facial features of BCNS (cited Muller et al. as reference 109).
Added American Cancer Society as reference 1.
Added Doubaj et al. as reference 62.
Added text to state that mutations in C16orf57 are associated with poikiloderma with neutropenia (cited Colombo et al. as reference 151).
Added text to state that mutations in C16orf57 have been identified in individuals with dyskeratosis congenita and poikiloderma with neutropenia, in addition to Rothmund-Thompson syndrome, suggesting that these syndromes are related; however, skin cancer risk in these conditions is not well characterized.
Added text about the Genes, Environment, and Melanoma study, which showed that first-degree relatives of CDKN2A mutation carriers with melanoma had an approximately 50% increased risk of cancers other than melanoma, compared with first-degree relatives of other melanoma patients (cited Mukherjee et al. as reference 88).
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.