DNA repair pathways and mitochondrial DNA mutations in gastrointestinal carcinogenesis

Evaluation of DNA Repair Gene XRCC1 Polymorphism in Prediction and Prognosis of Hepatocellular Carcinoma Risk

“…XRCC1 gene is regarded an important proteins in the multistep BER pathway, and it is the first mammalian gene isolated that affects cellular sensitivity to ionizing radiation (Thompson et al, 1990). Mutations of XRCC1 may increase the risk of cancers by impairing the interaction of XRCC1 with other enzymatic proteins and consequently altering DNA repair activity (Basso et al, 2007;Tudek, 2007), and subsequently induce the carcinogenesis of head and neck and cancer of lung, esophagus, breast and many other malignancies (Yu et al, 2003;Han et al, 2004). As we known, HBV and HCV may promote chromosomal instability or insertional mutations, and thus to induce the carcinoma development risk.…”

Association of XPD and XRCC1 Genetic Polymorphisms with Hepatocellular Carcinoma Risk

“…XRCC1 gene is regarded an important proteins in the multistep NER pathway, and it is the first mammalian gene isolated that affects cellular sensitivity to ionizing radiation (Thompson et al, 1990). Mutations of XRCC1 may increase the risk of cancers by impairing the interaction of XRCC1 with other enzymatic proteins and consequently altering DNA repair activity (Basso et al, 2007;Tudek, 2007), and subsequently induce the carcinogenesis of several malignant tumors (Yu et al, 2003;Han et al, 2004). HBV and HCV were the risk factors of HCC, and these two factors may cause chromosomal instability or insertional mutations, and thus to induce the carcinoma development risk.…”

Predictive Value of XRCC1 and XRCC3 Gene Polymorphisms for Risk of Ovarian Cancer Death After Chemotherapy

“…Amino acid substitutions in the BRCT domain and in the DNA polymerase β interacting domain in hamster is reported to disrupt the functionality of XRCC1 (Shen et al, 1998). The mutations of XRCC1 polymorphisms may increase the risk of cancers by impairing the interaction of XRCC1 with other enzymatic proteins and consequently altering DNA repair activity (Basso et al, 2007;Tudek, 2007), and resulted in carcinogenesis development. Our study found significant an odds ratio of codon 399 Gln allele for ovarian cancer, which strongly implicates that these polymorphisms may alter the normal protein function by encoding for a twisted protein (Tuimala et al, 2002), resulting in altered affinity to its interactive proteins suggesting an association with a deficiency in DNA repair capacity.…”