{"id":6483,"date":"2011-12-01T11:24:43","date_gmt":"2011-12-01T10:24:43","guid":{"rendered":"http:\/\/www.ilmelanoma.com\/"},"modified":"2013-05-30T11:24:54","modified_gmt":"2013-05-30T11:24:54","slug":"familial-malignant-melanoma","status":"publish","type":"page","link":"https:\/\/www.ilmelanoma.com\/en\/melanoma-and-2\/familial-malignant-melanoma\/","title":{"rendered":"Familial malignant melanoma"},"content":{"rendered":"
\"Immagine<\/a>
Immagine da: www.genetics.com.au<\/figcaption><\/figure>\n

It is estimated that 10% of melanomas are associated with familial or inherited syndromes, Melanoma has a hereditary autosomal dominant transmission pattern and only genetic tests can determine whether a person has a genetic mutation. If you have a parent or sibling with melanoma, your risk of developing melanoma is two to three times greater than the average person .The co-existence of melanoma and atypical nevi within families has been described and the syndrome has therefore been named Familial Atypical Multiple Mole-Melanoma (FAMMM).<\/p>\n

Mutations CDKN2A<\/strong> (p16, p14ARF eMST1) in are the most common cause of inherited melanoma and is believed to be linked to 25% of hereditary melanoma. This tumor suppressor gene encodes proteins that reduce cell growth These mutations, however can also appear in non-inherited cases of melanoma. Since 70% of people who have mutations in the CDKN2A gene will develop melanoma during their lifetime. All patients with CDKN2A mutation should be subjected to monthly analysis of the moles<\/p>\n

Variations in MC1R<\/strong> (melanocortin-1 receptor) have a higher risk to develop melanoma in their life. People who have dark skin and who has more variations of MC1R has a higher than average risk for melanoma.<\/p>\n

MDM2<\/strong> genetic variant appears seems to predispose women to develop melanoma at a younger age<\/p>\n

p16<\/em><\/a><\/strong> mutations are the most common cause of inherited cancer risk in families with melanoma and pancreatic cancer. Anyone with the inherited gene mutation<\/a> in the p16<\/em> is at higher than average risk for melanoma<\/p>\n

There are also some genetic diseases associated with an increased risk of having a melanoma melanoma-astrocytoma syndrome, xeroderma pigmentosum, retinoblastoma, Li-Fraumeni syndrome, the ataxia telangiectasia and Werner’s syndrome, hereditary ovarian and breast cancer, Cowden’s syndrome.<\/p>\n

Bibliography<\/p>\n

Hansen CB, Wadge LM, Lowstuter K,Boucher K, Leachman SA. Clinical germline genetic testing for melanoma. Lancet Oncol 2004;5:314-319.<\/p>\n

Somoano B, Niendorf KB, Tsao H. He reditary cancer syndromes of the skin. Clin Dermatol 2005;23:85-106.<\/p>\n

Ghiorzo P, Scarra GB. Genetics of melanoma susceptibility. Forum (Genova) 2003;13:114-122.<\/p>\n

Begg CB, Orlow I, Hummer AJ, et al. Lifetime risk of melanoma in CDKN2A mu tation carriers in a population-based sample. J Natl Cancer Inst 2005;97:1507-1515.<\/p>\n

The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999;91:1310-1316.<\/p>\n

Rieder H, Bartsch DK. Familial pancre atic cancer. Fam Cancer 2004;3:69-74.<\/p>\n

Riedijk SR, De Snoo FA, Van DijkS, et al. Hereditary melanoma and predic tive genetic testing: why not? Psychooncology 2005;14:738-745.<\/p>\n

de Snoo FA, Bergman W, Gruis N. Fa milial melanoma: a complex disorder leading to controversy on DNA testing.Fam Cancer 2003;2:109-116.<\/p>\n

Geno MEL: The Melanoma Genetics Consortium. Physician information. Available at:\u00a0www.genomel.org<\/a>. Accessed January 25, 2006.<\/p>\n

Tsao H, Niendorf K. Genetic testing in hereditary melanoma. J Am Acad Dermatol 2004; 51:803-808.<\/p>\n

Familial malignant melanoma<\/p>\n","protected":false},"excerpt":{"rendered":"

It is estimated that 10% of melanomas are associated with familial or inherited syndromes, Melanoma has a hereditary autosomal dominant transmission pattern and only genetic tests can determine whether a person has a genetic mutation. If you have a parent or sibling with melanoma, your risk of developing melanoma is two to three times greater […]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":5547,"menu_order":4,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-6483","page","type-page","status-publish","hentry"],"yoast_head":"\nFamilial malignant melanoma<\/title>\n<meta name=\"description\" content=\"Information on the genetic of melanoma: familial malignant melanoma\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.ilmelanoma.com\/en\/melanoma-and-2\/familial-malignant-melanoma\/\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" 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