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

SECTIONS

Changes to This Summary (02/22/2018)

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 (BCC)

Added text to state that the Dowling-Meara subtype of epidermolysis bullosa simplex has an estimated prevalence of 0.02 per million individuals in the United States and an incidence of 1.16 per million live births (cited Fine as reference 117).

Squamous Cell Carcinoma (SCC)

Added Rogers et al. as reference 3.

Added text to state that multiple studies indicate an increased risk of an SCC after a first nonmelanoma skin cancer (NMSC); a meta-analysis and review of 45 studies estimated that after a primary SCC diagnosis, 13.3% of individuals would develop a second SCC (cited Flohil et al. as reference 4).

The Sun exposure and other risk factors subsection was renamed from Sun exposure.

Revised text to state that among solid-organ transplant recipients, the risk of SCC and BCC varies with transplant type and with the immunosuppressive agent used. Also, revised text to state that among Medicare patients with an intact immune system, BCCs occur as frequently as SCCs.

Added DiGiovanna et al. as reference 43 and revised text to state that the prevalence of NMSC in individuals with xeroderma pigmentosum (XP) has been estimated to be 5,000 to 10,000 times what would be expected in the general population (cited Bradford et al. as reference 45).

Revised text to state that disorders of the cornea and eyelids associated with XP include cancer, including conjunctival and corneal cancers (cited Brooks et al. as reference 47).

Added text to state that a founder pathogenic variant at the 3’ splice acceptor site of intron 3 in the XPA gene is present in approximately 1% of the population in Japan representing nearly 1 million people (cited Hirai et al. as reference 55).

Added text to state that clinical genetic testing using sequence analysis to identify pathogenic variants is available for multiple XP-associated genes; the list can be found at the NIH Genetic Testing Registry.

Added text to state that some melanomas found in individuals with albinism do contain melanin (cited Knöpfel et al. as reference 73).

Added text to state that in one international study of individuals with albinism, biallelic variants in OCA2 were found in 17% of participants (cited Mauri et al. as reference 77).

Revised text to state that genetic variants in SLC45A2 (MATP/OCA4), SLC24A5 (OCA6), and TYRP1 are associated with less common types of oculocutaneous albinism; reported incidences for these genes in an international population of patients with albinism are 7% for SLC45A2, 1% for TYRP1, and less than 0.5% for SLC24A5.

Added text to state that additional genes associated with oculocutaneous albinism have been found in small numbers of patients. OCA5, located on chromosome 4q24, has been identified in a Pakistani family, whereas OCA6 appears to be caused by pathogenic variants in SLC24A5 on chromosome 15q21 (cited Kausar et al., Wei et al., and Morice-Picard et al., as references 82, 83, and 84, respectively). Pathogenic variants in C10orf11 (LRMDA) cause OCA7, which has been found in patients from the Faroe Islands and Denmark (cited Grønskov et al. as reference 85).

Revised text to state that the two recessively inherited subtypes of dystrophic epidermolysis bullosa (DEB) are rare; the prevalence per million individuals in the United States and incidence per million live births are 0.36 and 0.57 for severe-generalized recessive DEB, 0.14 and 0.30 for generalized-other or generalized-intermediate recessive DEB, and 1.49 and 2.12 for dominant DEB, respectively (cited Fine as reference 106).

Revised text to state that junctional epidermolysis bullosa has an estimated prevalence of 0.49 per million individuals in the United States and an estimated incidence of 2.68 per million live births.

Melanoma

Updated National Comprehensive Cancer Network as reference 121.

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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