Gene XRCC1
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Also known as
X-ray repair cross-complementing protein 1, RCCOverview
XRCC1 (X-Ray Repair Cross-Complementing Protein 1) encodes a scaffold protein that plays a central role in base excision repair (BER) and single-strand break repair (SSBR), two critical pathways for repairing DNA damage caused by oxidative stress, alkylation, and ionizing radiation. XRCC1 does not possess enzymatic activity itself but functions by recruiting and coordinating multiple DNA repair enzymes, including DNA ligase III, DNA polymerase beta, and poly(ADP-ribose) polymerase (PARP).Genetic polymorphisms in XRCC1, particularly the common Arg399Gln variant, have been extensively studied for their associations with cancer risk, DNA repair capacity, and response to environmental exposures. Individuals carrying certain XRCC1 variants may have reduced DNA repair efficiency, potentially increasing susceptibility to cancers including lung, breast, colorectal, and gastric cancers, particularly in the context of exposure to carcinogens like tobacco smoke or aflatoxins. These variants may also influence response to chemotherapy and radiation therapy.
Beyond cancer, XRCC1 variants have been associated with neurodegenerative diseases, as neurons are particularly vulnerable to oxidative DNA damage. Understanding XRCC1 genetics can inform personalized approaches to cancer screening, lifestyle recommendations regarding antioxidant intake and exposure to genotoxic agents, and predictions of therapeutic response to certain cancer treatments.