Genetics of Skin Cancer–for health professionals (PDQ®)

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Changes to This Summary (02/17/2016)

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 (BCC)

Added text about a phase III, double-blind, placebo-controlled clinical trial that evaluated the effects of oral nicotinamide in 386 individuals with a history of at least two nonmelanoma skin cancers; after 12 months of treatment, those taking nicotinamide 500 mg twice daily had a 20% reduction in the incidence of new BCCs (cited Chen et al. as reference 164).

Added level of evidence 1aii for nicotinomide in the prevention of BCC.

Added text to state that topical treatment with LDE225, a Smoothened agonist, has also been investigated for the treatment of BCC in a small number of patients with basal cell nevus syndrome with promising results (cited Skvara et al. as reference 168); however, this medication in this formulation is not approved by the U.S. Food and Drug Administration.

Added level of evidence 1 for LDE255 in the treatment of BCC.

Squamous Cell Carcinoma (SCC)

Added text about a phase III, double-blind, placebo-controlled clinical trial that evaluated the effects of oral nicotinamide in 386 individuals with a history of at least two nonmelanoma skin cancers; after 12 months of treatment, those taking nicotinamide 500 mg twice daily had a 30% reduction in the incidence of new SCCs (cited Chen et al. as reference 217).

Added level of evidence 1aii for nicotinomide in the prevention of SCC.

Melanoma

Added text to state that a study in Sweden of more than 65,000 individuals with melanoma found a standardized incidence ratio (SIR) of 2.8 for a second melanoma in individuals with a family history of melanoma and a SIR of 2.5 in individuals with no family history (cited Chen et al. as reference 76); the risk of a second melanoma increased when the first melanoma was diagnosed before age 40 years; the SIRs increased with increasing numbers of melanomas.

Added POLE as a new subsection.

Revised text to state that an updated set of operational criteria for the diagnosis of Cowden syndrome based on a systematic literature review has been suggested and is currently utilized in the National Comprehensive Cancer Network (NCCN) guidelines (cited NCCN as reference 153). Also added text to state that the American College of Medical Genetics and Genomics (ACMG) suggests that referral for genetics consultation be considered for individuals with a personal history of or a first-degree relative with 1) adult-onset Lhermitte-Duclos disease or 2) any three of the major or minor criteria that have been established for the diagnosis of Cowden syndrome; detailed recommendations, including diagnostic criteria for Cowden syndrome, can be found in the NCCN and ACMG guidelines.

Added text about a meta-analysis that showed that the more MC1R variants an individual carried, the higher the risk of SCC and BCC. Individuals with two or more MC1R variants had a summary odds ratio (OR) of 2.48 for BCC and a summary OR of 2.80 for SCC; these risks appeared to be stronger in individuals with red hair (cited Tagliabue et al. as reference 179).

Added Olsen et al. as reference 201; also added text to state that the melanoma risk prediction models differ in performance with respect to sensitivity and specificity, including differences by sex in some models.

Rare Skin Cancer Syndromes

Added Hereditary Leiomyomatosis and Renal Cell Carcinoma as a new subsection.

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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