Familial skin cancer syndromes : Increased melanoma risk - 16/02/16
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.
Le texte complet de cet article est disponible en PDF.Key words : genetics, genetic syndromes, inherited cancer risk, melanoma, oncogenes, skin cancer, tumor suppressor
Abbreviations used : ACD, BAP1, CDKN2A, CDK4, LFS, MM, MCR1, MITF, POT1, PTEN, TERT, TERF2IP, UV, XP
Plan
Funding sources: Supported by a Stanford University Medical Scholars Research Fellowship (Ms Jaju) and the Howard Hughes Medical Institute (Ms Ransohoff). |
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Dr Leachman has collaborated with Myriad Genetics Laboratory. All other authors have no conflicts of interest to declare. |
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Date of release: March 2016 |
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Expiration date: March 2019 |
Vol 74 - N° 3
P. 423-434 - mars 2016 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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