Bone and soft tissue sarcomas, tumors of the skinBone and soft tissue sarcomas, tumors of the skinСаркомы костей, мягких тканей и опухоли кожи2219-46142782-3687Publishing House ABV Press229TUMORS OF THE SKINОПУХОЛИ КОЖИMolecular and dinical aspects of genetic predisposition to cutaneous malignant melanomaКлинико-молекулярные аспекты предрасположенности к развитию меланомы кожиChernenkoP. A.ЧерненкоП. А.
Russian Federation
PetersonS. B.ПетерсонС. Б.
Russian Federation
LyubchenkoL. N.ЛюбченкоЛ. Н.
Russian Federation
clingen@mail.ruN.N. Blokhin Russian Cancer Research Center of the Russian Academy of Medical SciencesНИИ клинической онкологии РОНЦ им. Н.Н. Блохина РАМНN.I. Pirogov Russian State Medical UniversityГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздравсоцразвития России1101201241425111012022Copyright ©; 2012, Chernenko P.A., Peterson S.B., Lyubchenko L.N.Copyright ©; 2012, Черненко П.А., Петерсон С.Б., Любченко Л.Н.2012Chernenko P.A., Peterson S.B., Lyubchenko L.N.Черненко П.А., Петерсон С.Б., Любченко Л.Н.https://creativecommons.org/licenses/by/4.0https://sarbon.abvpress.ru/jour/article/view/229

Cutaneous malignant melanoma is a form of cancer for which both environmental influence and hereditary predisposition are major causative factors. Approximately 5% to 10% of cases of cutaneous melanoma occur in families that have a hereditary predisposition for this disease. Genetic studies have recently identified a subset of genes that are associated with risk for melanoma. Germline mutations in the CDKN2A gene have been identified in 20% to 50% of such melanoma families. This is an overview of our current understanding of modifications in high (CDKN2A, CDK4) and in low genes (MC1R, XPA, etc.) penetrance susceptibility, that have been associated with melanoma risk and how these genes can enrich clinical management and early detection of malignant melanoma.

Меланома кожи (МК) является этиологически гетерогенным заболеванием, его развитие связано с воздействием как средовых, так и генетических факторов. Примерно 5—10% случаев МК наблюдаются в семьях, имеющих генетическую предрасположенность к данному заболеванию. Герминальные мутации гена CDKN2A обнаруживают в 20—50% таких семей. Данный обзор посвящен анализу изменений генов с высокой (CDKN2A, CDK4) и низкой (MC1R, XPA и др.) пенетрантностью, ассоциированных с риском развития МК, а также ранней диагностике и прогнозу течения заболевания.

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