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10.1016/j.jaad.2015.08.037

http://scihub22266oqcxt.onion/10.1016/j.jaad.2015.08.037
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C4761106!4761106!26892651
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suck abstract from ncbi


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pmid26892651      J+Am+Acad+Dermatol 2016 ; 74 (3): 411-20
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  • Hereditary Melanoma: Update on Syndromes and Management - Emerging melanoma cancer complexes and genetic counseling #MMPMID26892651
  • Soura E; Eliades P; Shannon K; Stratigos A; Tsao H
  • J Am Acad Dermatol 2016[Mar]; 74 (3): 411-20 PMID26892651show ga
  • Recent advances in cancer genomics have enabled the discovery of many cancer predisposing genes that are being used to classify new familial melanoma/cancer syndromes. In addition to CDKN2A and CDK4, germline variants in TERT, MITF, and BAP1 have been added to the list of genes harboring melanoma-predisposing mutations. These newer entities may have escaped earlier description in part due to more advanced technologies and also in part due to their mixed cancer phenotype as opposed to a melanoma-focused syndrome. Dermatologists should be aware of, and able to recognize, the clinical signs exhibited by high-risk patients in different contexts. Personal and family history of cancer should always be sought in patients with multiple nevi, or positive history for melanoma, and should be updated yearly. Various features that are unique to specific disorders, such as the appearance of melanocytic BAP1-mutated atypical intradermal tumors (MBAITs) in cases of BAP1 melanoma syndrome, should also be recognized early. Such patients should be offered regular screenings with the use of dermoscopy and total body photography, as needed. More importantly, referral to other specialists may be needed if internal malignancy risk is suspected. It is important to have in mind that these patients tend to develop multiple melanomas, along with various internal organ malignancies, often at younger ages, therefore, a multidisciplinary approach to their cancer screening and treatment is ideal.
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