Abdullah EKMEKÇİ, ECE KONAÇ, H İlke ÖNEN

Gen polimorfizmi ve kansere yatkınlık

İnsanlardaki kalıtsal genetik kusurlar (mutasyonlar), kimyasalları aktive eden ve detoksifiye eden enzimlerin yapısını ve ifade edilme düzeyini (karsinojen metabolizmasını) etkileyen kişisel genetik farklılıklar, DNA hasarının onarım kapasitesini etkileyen polimorfik/genetik değişiklikler, kanser riskini arttırabilen başlıca genetik faktörlerdir. Polimorfizmlere mutasyonlardan daha sık rastlanır. Toplumda %1’den daha yüksek sıklıkta bulunan genetik çeşitlilik tipi ya da gen seçenekleri polimorfizm olarak tanımlanır. İnsan genomunda en çok bulunan genetik çeşitlilik tipi, tek nükleotit polimorfizmleridir (SNP). Genomda binlerce aday polimorfik genin bulunması ve genomunda bu farklılıkları taşıyan kişilerin kanser gelişimine olan duyarlılıklarını etkileyebilecek olması pek çok araştırmacıyı bu çalışma alanına sürüklemektedir.

Gene polymorphism and genetic susceptıbility to cancer

Main genetic factors which may increase the risk of cancer are genetic disorders (mutations), genetic differences which affect the structures and expression levels (carcinogenic metabolism) of enzymes that activate and detoxificate chemicals and polymorphic/genetic changes which affect the capacity to repair DNA damage. Polymorphisms are observed more frequently than the mutations. A gene polymorphism is defined as the occurrence of genetic variants or gene alternative forms in frequencies higher than 1 percent. Single nucleotide polymorphisms (SNPs) are the most observed genetic variants in human genome. Presence of thousands of polymorphic genes in the genome and the fact that the genome may affect the susceptibility of individuals with these variants to development of cancer lead many researchers to explore this uncharted study area.

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