Epimutation in DNA Mismatch Repair (MMR) Genes
نویسندگان
چکیده
منابع مشابه
Methylation Analysis of DNA Mismatch Repair Genes Using DNA Derived from the Peripheral Blood of Patients with Endometrial Cancer: Epimutation in Endometrial Carcinogenesis
Germline mutation of DNA mismatch repair (MMR) genes is a cause of Lynch syndrome. Methylation of MutL homolog 1 (MLH1) and MutS homolog 2 (MSH2) has been detected in peripheral blood cells of patients with colorectal cancer. This methylation is referred to as epimutation. Methylation of these genes has not been studied in an unselected series of endometrial cancer cases. Therefore, we examined...
متن کاملEpimutation and cancer: A new carcinogenic mechanism of Lynch syndrome
Epimutation is defined as abnormal transcriptional repression of active genes and/or abnormal activation of usually repressed genes caused by errors in epigenetic gene repression. Epimutation arises in somatic cells and the germline, and constitutional epimutation may also occur. Epimutation is the first step of tumorigenesis and can be a direct c...
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Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...
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wnloaded mismatch repair (MMR) pathway is involved in the removal of DNA base mismatches that arise during DNA replication or are caused by DNA damage. Mutations in four genes involved in MMR, , MLH1, PMS2 and MSH6, predispose to a range of tumorigenic conditions, including hereditary lyposis colon cancer, also known as Lynch syndrome. Here we discuss the canonical MMR pathway e burgeoning evid...
متن کاملDNA mismatch repair, microsatellite instability and cancer.
Mismatch (MMR) repair system plays a significant role in restoration of stability in the genome. Mutations in mismatch repair genes hamper their activity thus bring about a defect in mismatch repair (MMR) mechanism thereby conferring instability in the microsatellite sequences of both the coding and non-coding regions of the genome. Mutated mismatch repair genes result in the expansion or contr...
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