![]() ![]() One study in an XP population found therapeutic use of fluorouracil (5-FU) to be efficacious, particularly in the treatment of extensive lesions. Treatment of hereditary skin cancers is similar to the treatment of sporadic skin cancers. Isotretinoin has also been shown to reduce SCC incidence among patients with XP. Vismodegib has also shown promise in reducing the per-patient annual rate of new BCCs requiring surgery among patients with BCNS. Chemopreventive agents such as isotretinoin and acitretin have been studied for the treatment of BCCs in patients with BCNS and XP and are associated with a significant decrease in the number of tumors per year. Risk-reducing strategies for individuals with an increased hereditary predisposition to skin cancer are similar to recommendations for the general population, and include sun avoidance, use of sunscreen, use of sun-protective clothing, and avoidance of tanning beds. Genome-wide association studies show promise in identifying common, low-penetrance susceptibility alleles for many complex diseases, including melanoma, but the clinical utility of these findings remains uncertain. Germline pathogenic variants in several other genes, including CDK4, MITF, BAP1, and BRCA2, have also been found to be associated with melanoma. The major germline tumor suppressor gene associated with melanoma is CDKN2A pathogenic variants in CDKN2A have been estimated to account for 35% to 40% of all familial melanomas. The autosomal recessive disease xeroderma pigmentosum (XP) is associated with an increased risk of BCC, SCC, and melanoma. Syndromes such as oculocutaneous albinism, epidermolysis bullosa, and Fanconi anemia are associated with an increased risk of SCC. Basal cell nevus syndrome (BCNS, caused by pathogenic variants in PTCH1 and PTCH2) is associated with an increased risk of BCC. Several genes and hereditary syndromes are associated with the development of skin cancer. It is the most lethal of the common skin cancers. ![]() Melanoma (which is sometimes referred to as cutaneous melanoma) is a less common type of skin cancer, but 5% to 10% of all melanomas arise in multiple-case families and may be inherited in an autosomal dominant fashion. Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are two of the most common malignancies in the United States and are often caused by sun exposure, although several hereditary syndromes and genes are also associated with an increased risk of developing these cancers. More than 100 types of tumors are clinically apparent on the skin many are known to have familial and/or inherited components, either in isolation or as part of a syndrome with other features. ![]() This executive summary reviews the topics covered in this PDQ summary on the genetics of skin cancer, with hyperlinks to detailed sections below that describe the evidence on each topic. ![]()
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