title: Familial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors.
abstract: Nonmelanoma skin cancers (NMSCs) represent the most common malignancies worldwide, with reported incidence rising each year. Both cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), as well as other NMSCs, represent complex diseases with a combination of environmental and genetic risk factors. In general, hereditary cancer syndromes that increase the risk of NMSC fall under several broad categories: those associated with immunodeficiencies, those that affect skin pigmentation, and those that perturb key molecular pathways involved in the pathogenesis of NMSCs. Many of the syndromes are also associated with extracutaneous manifestations, including internal malignancies; therefore, most require a multidisciplinary management approach with a medical geneticist. Finally, dermatologists play a critical role in the diagnosis and management of these conditions, because cutaneous findings are often the presenting manifestations of disease.
authors.affiliation: Department of Dermatology, Stanford University Medical Center, Stanford, California.
authors.forename: Prajakta D
authors.initials: PD
authors.lastname: Jaju
authors.affiliation: Department of Dermatology, Stanford University Medical Center, Stanford, California.
authors.forename: Katherine J
authors.initials: KJ
authors.lastname: Ransohoff
authors.affiliation: Department of Dermatology, Stanford University Medical Center, Stanford, California.
authors.forename: Jean Y
authors.initials: JY
authors.lastname: Tang
authors.affiliation: Department of Dermatology, Stanford University Medical Center, Stanford, California. Electronic address: ksarin@stanford.edu.
authors.forename: Kavita Y
authors.initials: KY
authors.lastname: Sarin
mesh_terms: D002280:Basal Cell Carcinoma / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D003663:Decision Trees; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D012306:Risk; D012878:Skin Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics* / Q000628:therapy
keywords: Bloom syndrome; Gorlin syndrome; Muir–Torre syndrome; Rothmund–Thomson syndrome; Werner syndrome; dyskeratosis congenita; genetic testing; nonmelanoma skin cancer; oculocutaneous albinism