title: Genetic testing by cancer site: skin.
abstract: Many hereditary cancer predisposition syndromes are associated with cutaneous findings, both benign and malignant. Dermatological examination and histopathology, when combined with a thorough personal and family medical history, play an important role in the diagnosis of cancer predisposition syndromes. Skin findings are an important diagnostic tool for a variety of cancer syndromes, including Cowden syndrome, Birt-Hogg-Dubé, hereditary leiomyomatosis renal cell carcinoma, and others. This article focuses on the phenotype, medical management, and genetic testing for 4 hereditary cancer syndromes that include cutaneous findings: hereditary melanoma, basal cell nevus syndrome, neurofibromatosis type 1, and neurofibromatosis type 2.
authors: Center for Cancer Risk Assessment, Massachusetts General Hospital, 55 Fruit St., Boston, MA, USA. mcgabree@partners.org
authors: Michele
authors: M
authors: Gabree
authors: Meredith
authors: M
authors: Seidel
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000235:genetics*; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics