Piepkorn M Melanoma genetics: an update with focus on the CDKN2A(p16)/ARF tumor suppressors. J Am Acad Dermatol 2000 May;42(5 Pt 1):705-22; quiz 723-6 Related articles (PubMed)
Bittner M et al. Molecular classification of cutaneous malignant melanoma by gene expression profiling Nature 2000; 406, 536 - 540
Castellano M, Parmiani G Genes involved in melanoma: an overview of INK4a and other loci. [Review] Melanoma Res 1999 Oct;9(5):421-32 Related articles (PubMed)
Radhi JM Malignant melanoma arising from nevi, p53, p16, and bcl-2: expression in benign versus malignant components. J Cutan Med Surg 1999; 3(6):293-7 Related articles (PubMed)
Kahari VM, Saarialho-Kere U Matrix metalloproteinases and their inhibitors in tumour growth and invasion. [Review] Ann Med 1999;31(1):34-45 Related articles (PubMed)
Kahari VM, Saarialho-Kere U Matrix metalloproteinases in skin. [Review] Exp Dermatol 1997;6(5):199-213 Related articles (PubMed)
Medline Search: melanoma AND genetics (PubMed)
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 Melanoma Genetics
Melanoma : Clinical and Epidemiological Information
 Familial Melanoma and Nevi
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Germline mutations in the CDKN2A gene have been identified in about 20% of melanoma-prone families. Melanoma families with CDKN2A germline mutations also have an excess risk of pancreatic cancer. Other genes implicated in familial
melanoma include the CMM1 locus (1p36) had been implicated, but a number of studies indicate this is not involved, including an Australian study of 7 pedigrees. There have also been annecdotal reports of germline mutations in the CDK4 gene (12q14).
The most common form of hereditary melanoma is familial atypical multiple mole-melanoma (FAMMM) syndrome. Dutch sudies indicate that germline mutations of CDKN2A are detected in 40-50% of cases. Familial dysplastic nevi is also associated with melanoma.
Investigators at the Mayo Clinic reported a family in which cutaneous malignant melanoma or cerebral astrocytoma, or both, developed in eight members over three generations, possibly representing a new genetic disorder. Germline deletions of 9p21 occur in
these families, and p19 has is a proposed candidate gene.
Greene MH The genetics of hereditary melanoma and nevi: 1998 Update. Cancer 1999; 86(S11):2464-2477 Related articles (PubMed)
Gruis NA, et al. Familial melanoma; CDKN2A and beyond. J Investig Dermatol Symp Proc 1999; 4(1):50-4 Related articles (PubMed)
Nancarrow DJ, et al. Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees. Genomics. 1992; 12(1):18-25 Related articles (PubMed)
Kaufman DK, et al. A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma. Neurology 1993; 43(9):1728-31 Related articles (PubMed)
Carey WP Jr, et al. Dysplastic nevi as a melanoma risk factor in patients with familial melanoma. Cancer. 1994 Dec 15;74(12):3118-25 Related articles (PubMed)
Novakovic B, et al. Melanocytic nevi, dysplastic nevi, and malignant melanoma in children from melanoma-prone families. J Am Acad Dermatol. 1995; 33(4):631-6 Related articles (PubMed)
Medline Search: hereditary melanoma (PubMed)
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Melanoma Genetics
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