Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6069897 | Journal of the American Academy of Dermatology | 2016 | 12 Pages |
Abstract
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.
Keywords
BAP1MCR1Li–Fraumeni syndromePOT1CDK4MITFCDKN2AOncogenesLFSACDxeroderma pigmentosumUltravioletTERTTelomerase reverse transcriptaseprotection of telomeres 1MelanomaSkin cancerTumor suppressorGenetic syndromesMicrophthalmia-associated transcription factorphosphatase and tensin homologmalignant melanomacyclin-dependent kinase inhibitor 2APtenGeneticscyclin-dependent kinase 4Melanocortin 1 receptor
Related Topics
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Dermatology
Authors
Katherine J. BA, Prajaka D. BA, Jean Y. MD, PhD, Michele MD, PhD, Sancy MD, PhD, Kavita Y. MD, PhD,