Familial skin cancer syndromes: Increased melanoma risk

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• 作者：Katherine J. Ransohoff ; BA^a ; Prajaka D. Jaju ; BA^a ; Jean Y. Tang ; MD ; PhD^a ; Michele Carbone ; MD ; PhD^b ; Sancy Leachman ; MD ; PhD^c ; Kavita Y. Sarin ; MD ; PhD^a ; ^{ksarin@stanford.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：genetics ; genetic syndromes ; inherited cancer risk ; melanoma ; oncogenes ; skin cancer ; tumor suppressor
• 刊名：Journal of the American Academy of Dermatology
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：74
• 期：3
• 页码：423-434
• 全文大小：912 K

文摘

Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2- to 3-fold. In addition, approximately 10% of melanomas are caused by inherited germline mutations that increase melanoma risk from 4- to >1000-fold. This review highlights the key genes responsible for inherited melanoma, with an emphasis on when a patient should undergo genetic testing. Many genetic syndromes associated with increased melanoma risk are also associated with an increased risk of other cancers. Identification of these high-risk patients is essential for preventive behavior reinforcement, genetic counseling, and ensuring other required cancer screenings.