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GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA

A Journal on Dermatology and Sexually Transmitted Diseases


Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
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Giornale Italiano di Dermatologia e Venereologia 2000 February;135(1):63-9

language: Italian

Genetic aspects of cutaneous familial melanoma.

Calista D., Landi M. T. *, Minghetti P., Landi G.

Ospedale M. Bufalini - Cesena Unità Operativa di Dermatologia
* Genetic Epidemiologic Branch, National Cancer Institute/NIH - Bethesda, MD, USA


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Approximately 8-12% of melanoma is inherited in an autosomal dominant fashion with variable penetrance. Over the last ten years, three major cutaneous malignant melanoma (CMM) genes have been identified in the germline cells of some melanoma prone family members. The first maps to chromosome 1p36 and encodes for a protein whose activity is still unknown. The second, CDKN2A, also known as p16, MTS1 and CDK4, was found mutated in about 25-50% of melanoma prone families. CDKN2A, localised to chromosome 9p21, is a tumour suppressor gene. It encodes the protein p16, a cyclin-dependent kinases 4 and 6 inhibitor that limits cells from progressing through the G1 restriction point. The third gene maps to chromosome 12q14 and encodes the cyclin-dependent kinase 4 (CDK4) which expresses an oncogenic protein. Many families with a predisposition for melanoma apparently have no mutations. Notwithstanding the rapid development of the molecular biological technique, the research on the genetic aspects of familial melanoma seems to be more complicated than was initially expected. A brief review of literature regarding this area is reported.

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