Familial skin cancer syndromes: Increased melanoma risk (eg. brca)

abstract
 

Continuing medical education

Familial skin cancer syndromes : Increased melanoma risk

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Referred to by

• CME examination

• Journal of the American Academy of Dermatology, Volume 74, Issue 3, March 2016, Page 435

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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.

Key words

• genetics;
• genetic syndromes;
• inherited cancer risk;
• melanoma;
• oncogenes;
• skin cancer;
• tumor suppressor

Abbreviations used

• ACD, adrenocortical dysplasia homologue;
• BAP1, BRCA1-associated protein-1 (ubiquitin carboxy-terminal hydrolase);
• CDKN2A, cyclin-dependent kinase inhibitor 2A;
• CDK4, cyclin-dependent kinase 4;
• LFS, Li–Fraumeni syndrome;
• MM, malignant melanoma;
• MCR1, melanocortin 1 receptor;
• MITF, microphthalmia-associated transcription factor;
• POT1, protection of telomeres 1;
• PTEN, phosphatase and tensin homolog;
• TERT, telomerase reverse transcriptase;
• TERF2IP, telomeric repeat binding factor 2, interacting protein;
• UV, ultraviolet;
• XP, xeroderma pigmentosum