Genetics and Epigenetics of Corpus uteri Cancer

Changes in the uterus for instance in the menstrual cycle take place because of hormonal alterations through complex genetic and epigenetic processes that alter the gene expression and cellular activities which in turn lead to such alterations. Genetics in this case is represented by sequences and polymorphisms of nucleotides inherited while other epigenetics include DNA methylation, histone changes, and interactions with non-coding RNA. Interaction among these two and all other mechanisms in the body aids in the regulation of critical processes such as cell growth differentiation as well as cell death through programmed cell death. Methods: PubMed, Scopus and Web of Science were the main databases, and systematic searches were carried out using various search terms namely, “genetics”, “epigenetics”, “corpus uteri”, “endometrial cancer” and “endometriosis” for articles on endometriosis and or uterine cancer diagnosis. Inclusion criteria were a study published from ۲۰۱۰-۲۰۲۴ that reported genetic or epigenetic risk factors associated with the corpus uteri. Information was obtained that pertained to genetic alterations, alteration of expression, change in the epigenetics, and their functional significance. Results: Genetic Factors in the Corpus Uteri ۱. Genetic Mutations: • Mutations in key genes such as PTEN, KRAS, and PIK۳CA have been implicated in endometrial cancer. These mutations disrupt normal signaling pathways involved in cell proliferation and survival. ۲. Single Nucleotide Polymorphisms (SNPs): • SNPs in hormone-related genes (e.g., ESR۱, CYP۱۹A۱) can influence individual susceptibility to uterine diseases by altering hormone metabolism and signaling pathways. ۳. Gene Expression Profiles: • Differential gene expression analysis has identified specific gene signatures associated with various phases of the menstrual cycle as well as pathological states like endometriosis and cancer. Epigenetic Regulation in the Corpus Uteri ۱. DNA Methylation: • Aberrant DNA methylation patterns have been observed in endometrial cancer, with hypermethylation leading to silencing of tumor suppressor genes. Conversely, hypomethylation can activate oncogenes. ۲. Histone Modifications: • Post-translational modifications of histones (e.g., acetylation, methylation) play a significant role in chromatin remodeling during the menstrual cycle. These modifications regulate gene expression related to endometrial growth and differentiation. ۳. Non-Coding RNAs: • Long non-coding RNAs (lncRNAs) and microRNAs (miRNAs) are critical regulators of gene expression in the corpus uteri. For example, lncRNAs can modulate chromatin structure or act as sponges for miRNAs, influencing pathways associated with cell proliferation and apoptosis. Interplay Between Genetics and Epigenetics The interaction between genetic mutations and epigenetic modifications is complex: • Epigenetic Changes Induced by Genetic Mutations: Mutations may alter the expression of epigenetic regulators, leading to widespread changes in gene expression profiles. • Environmental Influences: Factors such as diet, stress, and exposure to environmental toxins can induce epigenetic changes that interact with an individual's genetic predispositions. Conclusion: Both genetics and epigenetics offer comprehension of the biological processes of corpus uteri. Some factors may be genetic causing deformation in the body this will lead to a disease of the uterus and other factors may be epigenetic meaning that they will expand the disease further by suppressing gene expression. This complexity highlights the importance of integrating genetic and epigenetic data for a comprehensive understanding of uterine health. Future research using advanced genomic technologies will be crucial for understanding the complexities of genetic and epigenetic regulation within this important reproductive tissue.

کلیدواژه ها:

Long Non-Coding RNAs (lncRNAs) ، Corpus uteri ، Epigenetic Regulation ، DNA methylation ، Endometrial Cancer