Genetics of Skin Cancer (PDQ®)–Health Professional Version
Changes to This Summary (01/31/2019)
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.
Updated National Comprehensive Cancer Network (NCCN): Clinical Practice Guidelines in Oncology: Basal Cell Skin Cancer as reference 132.
Updated American Cancer Society as reference 2.
Added text to state that SCC occurring at extremely early ages is a hallmark of oculocutaneous albinism. In a cohort of nearly 1,000 Nigerian patients with albinism, all had malignant or premalignant cutaneous lesions by age 20 years (cited Iversen et al. as reference 74).
Added Table 6: Types of Oculocutaneous Albinism.
Added Mellerio et al. as reference 236.
Added text to state that for patients with epidermolysis bullosa (EB), wide local excision of SCC with 2 cm margins remains the treatment of choice. Amputation may be considered as an option to reduce disease recurrence, although it is not clear that this has an impact on survival. The role of sentinel lymph node biopsy remains unclear in this population.
Added text to state that current guidelines recommend that individuals with EB and unresectable SCC be treated with radiation therapy, but the dose may need to be given in smaller fractions in order to decrease the risk of skin desquamation. Systemic therapy with epidermal growth factor receptor antagonists or tyrosine kinase inhibitors may also be considered for individuals with advanced SCC.
Added text to state that guidelines for the management of patients with EB recommend skin examinations every 3 to 6 months starting at age 10 years for individuals with the severe-generalized dystrophic epidermolysis bullosa subtype of the disease. For individuals with other subtypes of EB, skin examination every 6 to 12 months starting at age 20 years is recommended in the absence of an established SCC diagnosis. Dental examination every 6 months is also recommended in this population.
Added text to state that a study of 92 sequential cases of Italian individuals with familial atypical multiple mole-melanoma syndrome found CDKN2A pathogenic variants in 20% of individuals, including three unrelated individuals with a p.D84V variant (cited Borroni et al. as reference 40). Also added text to state that cascade testing identified 14 of 40 unaffected family members undergoing testing who carried their family’s CDKN2A pathogenic variant. However, a second study of 106 familial melanoma cases only found CDKN2A pathogenic variants in 8.3% of cases (cited Pellegrini et al. as reference 41).
Added text to state that a few studies have identified individuals with sarcoma who have germline pathogenic variants in CDKN2A, but the number of cases is too small to determine the risk of sarcoma associated with this gene (cited Jouenne et al. and Chan et al. as references 70 and 71, respectively). One patient with features of Li-Fraumeni syndrome did not carry a TP53 pathogenic variant, but a deletion of CDKN2A and CDKN2B. A whole-exome sequencing study of a Li-Fraumeni–like family with three individuals with soft tissue sarcoma identified a shared pathogenic CDKN2A variant. An evaluation of 474 melanoma families with cases of sarcoma and 190 TP53 variant–negative Li-Fraumeni–like families found eight additional individuals with sarcoma and pathogenic CDKN2A variants.
Added text to state that a study of 106 familial melanoma cases found that 47% of multiple primary melanoma cases and 58% of familial melanoma cases carried a risk-associated TERT promoter variant, rs2853669; the prevalence of this variant in the general population is estimated to be between 25% and 29% (cited Reference SNP [refSNP] Cluster Report as reference 101).
Updated NCCN: Genetic/Familial: High-Risk Assessment: Breast and Ovarian as reference 130.
Added 9q21 and GOLM1 as a new subsection.
Added text to state that one study of the incidence of skin cancer in Lynch syndrome suggests there is an increase in sebaceous carcinoma and SCC in patients with Lynch syndrome (cited Adan et al. as reference 18).
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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