title: [DNA repair pathways and their involvement in human diseases].
abstract: Integrity maintenance of the genome is crucial. Human DNA is vulnerable to damage arising from both endogenous and exogenous sources. Different DNA repair pathways counteract these potentially mutagenic accidents: damage reversal by methylguanine methyl transferase (MGMT), base nucleotide repair (BER), nucleotide excision repair (NER), mismatch repair (MMR) and repair of strand breaks. In some cases, DNA damage is not repaired but is instead bypassed by specialized DNA polymerases. The existence of human diseases associated with defects in DNA repair illustrates the importance of this process of quality control. Many of these human diseases have an increased susceptibility to cancer.
authors.affiliation: Facultatea de Medicină, Universitatea de Medicină şi Farmacie Gr.T. Popa Iaşi.
authors.forename: I
authors.initials: I
authors.lastname: Sandovici
authors.forename: Mona Corina
authors.initials: MC
authors.lastname: Buhuşi
authors.forename: Ortansa
authors.initials: O
authors.lastname: Stoica
authors.forename: M
authors.initials: M
authors.lastname: Covic
mesh_terms: D004249:DNA Damage / Q000235:genetics; D004260:DNA Repair / Q000235:genetics / Q000502:physiology*; D004268:DNA-Binding Proteins / Q000502:physiology; D020022:Genetic Predisposition to Disease; D006801:Humans; D009369:Neoplasms / Q000235:genetics; D019853:O(6)-Methylguanine-DNA Methyltransferase / Q000502:physiology
chemical_list: D004268:DNA-Binding Proteins; D019853:O(6)-Methylguanine-DNA Methyltransferase