Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). ... Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600.
In a human cutaneous malignant melanoma cell line, Wolfel et al. (1995) identified a mutation in the CDK4 gene (R24C; 123829.0001). The same mutation was found in 1 additional melanoma among 28 melanomas analyzed.
Zuo et ... In a human cutaneous malignant melanoma cell line, Wolfel et al. (1995) identified a mutation in the CDK4 gene (R24C; 123829.0001). The same mutation was found in 1 additional melanoma among 28 melanomas analyzed. Zuo et al. (1996) identified germline R24C mutations in affected members of 2 unrelated families with malignant melanoma. Soufir et al. (1998) identified an R24H (123829.0002) mutation in a French family with malignant melanoma. In a large Norwegian pedigree first reported by Grimstvedt (1969), Molven et al. (2005) identified the R24H mutation. The authors cited unpublished data on an Australian and an English melanoma family, both with the R24H mutation. Molven et al. (2005) stated that whereas approximately 20% of melanoma-prone families bear a mutation in the CDKN2A locus (600160), mutations in the CDK4 locus are much rarer, having been linked to the disease in only 6 families worldwide.