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

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Changes to This Summary (05/18/2018)

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.

Basal Cell Carcinoma

Revised text to state that other benign neoplasms associated with basal cell nevus syndrome include gastric hamartomatous polyps, congenital pulmonary cysts, cardiac fibromas, meningiomas, craniopharyngiomas, fetal rhabdomyomas, leiomyomas, mesenchymomas, basaloid follicular hamartomas, and nasal dermoid tumors (cited Ponti et al. as reference 68).

Squamous Cell Carcinoma (SCC)

Added Montaudié et al. as reference 103.

Added text to state that the incidence of SCC appears to be highest in the recessively inherited subtype of dystrophic epidermolysis bullosa (RDEB). In a review of 69 articles that included all types of epidermolysis bullosa, 117 individuals with SCC were identified; 81 of these cases (69.2%) were in individuals with RDEB.

Added Future therapies for epidermolysis bullosa as a new subsection.

Melanoma

Added text to state that a study of more than 670 carriers of CDKN2A pathogenic variants and 1,258 carriers of wild-type or benign CDKN2A variants found that participants with pathogenic variants were more likely to be diagnosed at an earlier age and have multiple primary melanomas (MPM) (cited 2016 Taylor et al. as reference 59).

The CDKN2A, cutaneous phenotypes, and cancers other than melanoma subsection was renamed from CDKN2A and cancers other than melanoma.

Added text to state that in a Melanoma Genetics Consortium study of 1,641 family members of melanoma probands, family members with a CDKN2A pathogenic variant were more likely to have atypical nevi than were family members of CDKN2A noncarriers (cited 2017 Taylor et al. as reference 63). Also added text to state that another study of individuals in Sweden with MPM and two or more cases of melanoma in their first-, second-, or third-degree relatives found CDKN2A pathogenic variants in 43 of 100 cases. Familial MPM cases with CDKN2A variants, familial MPM cases wild-type for CDKN2A, and nonfamilial MPM cases all showed increased risks of future cutaneous SCCs compared with controls (cited Helgadottir et al. as reference 64).

Revised text to state that potentially pathogenic BAP1 germline variants occur in a low percentage of melanoma cases. One targeted sequencing study of 1,109 unselected cutaneous melanoma cases found only seven germline missense pathogenic variants. Also added text to state that a second series of 1,977 melanoma cases and 754 controls identified 22 rare variants in BAP1 among cases and 5 rare variants among controls; three of the variants found only among cases were confirmed to disrupt BAP1 function and were associated with family histories of other BAP1-associated cancers (cited O'Shea et al. as reference 114).

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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