Abstract
This article represents intermediate results of the research of the international project on the direction of complex diagnostics of skin melanoma. A preliminary screening of patients was carried out, which included the analysis of molecular markers of genomic DNA causing the development of susceptibility to the development of melanoma. In this paper, 7 gene polymorphisms of CDKN2A (cyclin-dependent kinase inhibitor 2A), MC1R (melanocortin 1 receptor) and MITF (microphthalmia transcription factor) are considered. In total, 122 patients were studied.References
Мазуренко Н.Н. Генетические особенности и маркеры меланомы кожи // Успехи молекулярной онкологии. - 2014. - № 2. - С. 36-43.
Kumar S., Stecher G., Tamura K. MEGA7: Molecular Evolutionary Genetics Analysis version 7.0 for bigger datasets // Molecular Biology and Evolution. - 2016. - Vol. 33. - P. 1870-1874.
Новик А.В. Меланома кожи: новые подходы // Практическая онкология. - 2011. - Т. 2. - № 1. - С. 36-42.
Bohm M., Jagirdar K., Sturm R.A. et al. Lack of protection from development of multiple melanomas by an injected melanocortin analogue in a combined high-risk MC1R/ CDKN2A genotype patient // Journal of European Academy of Dermatology and Venereology. - 2016. - Vol. 30, Is. 10. - P. 65-67.
Botezatu I.V., Nechaeva I.O., Stroganova A.M. et al. Optimization of melting analysis with Taqman probes for de tection of KRAS, NRAS and BRAF mutations // Analytical Biochemistry. - 2015. - Vol. 491. - P. 75-83.
Davies M.A., Samuels Y Analysis of the genome to personalize therapy for melanoma // Oncogene. - 2010. - Vol. 29 (41). - P. 5545-5555.
Delaunay J., Martin L., de Paillerets B.D. et al. Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Lowto Moderate Incidence. The Rule of 2 vs the Rule of 3 // JAMA Dermatology. - 2017. - Vol. 153 (11). - P. 1122-1129.
Fargnoli M.C., Gandini S., Peris K. et al. MC1R variants increase melanoma risk in families with CDKN2A mutations: A meta-analysis // European Journal of Cancer. - 2010. - Vol. 46. - P. 1413-1420.
Harlanda M., Goldsteinb A.M., Kukalizcha K. et al. A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL) // European Journal of Cancer. - 2008. - Vol. 44 (9). - P. 1269-1274.
Hayward N.K., Wilmott J.S., Waddell N. et al. Whole-ge-nome landscapes of major melanoma subtypes // Nature. - 2017. - Vol. 545 (7653). - P. 175-180.
Helgadottir H., Tuominen R., Olsson H. et al. Cancer risks and survival in patients with multiple primary melanomas: Association with family history of melanoma and germline CDKN2A mutation status // Journal of American Academy of Dermatology. - 2017. - Vol. 77 (5). - P. 893-901.
Helgadottir H., Hoiom V., Tuominen R. et al. Germline CD-KN2A Mutation Status and Survival in Familial Melanoma Cases // Journal of the National Cancer Institute. - 2016. - Vol. 108 (11). - DOI: 10.1093/jnci/djw135
Leachman S.A., Olivia M. Lucero O.M. et al. Identification, genetic testing, and management of hereditary melanoma // Cancer Metastasis Rev. - 2017. - Vol. 36. - P. 77-90.
Levin T, Mæhle L. Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway // Familial Cancer. - 2017. - Vol. 16. - P. 257-265.
Lynch H.T., Shaw T.G. Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity // Familial Cancer. - 2016. - Vol. 15 (3). - P. 487-491.
Mangas C., Potrony M., Mainetti C. et al. Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF // British Journal of Dermatology. - 2016. - Vol. 175 (5). - P. 1030-1037.
Melamed R.D., Aydin I.T., Rajan G.S. et al. Genomic Characterization of Dysplastic Nevi Unveils Implications for Diagnosis of Melanoma // The Journal of Investigative Dermatology. - 2017. - Vol. 137 (4). - P. 905-909.
Soura E., Eliades P.J., Shannon K. et al. Hereditary melanoma: Update on syndromes and management. Emerging melanoma cancer complexes and genetic counseling // Journal of American Academy of Dermatology. - 2016. - Vol. 74. - P. 411-420.
Taylor N.J., Mitra N., Goldstein A.M. et al. Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families // The Journal of Investigative Dermatology. - 2017. - Vol. 137 (12). - P. 2606-2612.
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