Biopolym. Cell. 2024; 40(1):14-36.
Genetic and epigenetic alterations in human cancers
1Gerashchenko G. V., 1Kashuba V. I., 1Tukalo M. A.
  1. Institute of Molecular Biology and Genetics, NAS of Ukraine
    150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03143


In carcinogenesis, tumor cells acquire certain cancer hallmarks based on the changes at various molecular levels. This review discusses abnormalities in cancer cells at the genetic and epigenetic levels. Genetic alterations are considered in the example of seven cancers, including lung, breast, prostate, colorectal, renal, cervical, and ovary cancers. Genetic changes disrupt the functioning of both oncogenes and tumor suppressor genes and occur as deletions, amplifications, chromosomal aberrations and chromosomal loci, thousands of somatic mutations and the appearance of oncogenic fusion transcripts etc. Epigenetic aberrations are also multifaceted. These include hypermethylation and hypomethylation of gene promoters, histone modifications, changes in non-coding RNA expression profiles etc. Genetic and epigenetic disorders are tumor-specific and common for many cancer types. The development of modern large-scale methods for detecting genetic and epigenetic alterations makes it possible to detect simultaneously these aberrations and molecular profiles of different cancer types. Many of these alterations could be the targets for cancer diagnosis and the development of effective treatments.
Keywords: carcinogenesis, oncogenes, tumor suppressor genes, deletions, amplification, LOH, somatic and germline mutations, promoter methylation, noncoding RNA, NGS


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