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ORIGINAL ARTICLEImpact of a Missense Variation (p.S150R:AGC>AGG) in the XRCC2 Gene on Susceptibility to Colorectal Cancer by Mona Sadat-Larijani, Shaghayegh Derakhshani, Behta Keshavarz-Pakseresht, Ali Nasri-Nasrabadi, Atefeh Shirkavand, Seyed Ataollah Sadat-Shandiz, Fahimeh Baghbani-Arani

Background: The X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2) is an important protein in response to DNA double-strand breaks (DSBs) in human cells. XRCC2, as a functional protein in the homologous recombination repair (HRR) process, has been identified to have several polymorphisms which might be associated with the risk of cancer. Therefore, we aimed to investigate a novel missense variation (AGC>AGG, p.Ser150Arg) in the XRCC2 gene for colorectal cancer susceptibility.
Methods: We studied 291 colorectal cancer (CRC) patients and 140 healthy individuals. ARMS PCR method was used to detect the AGC>AGG (p.Ser150Arg) variation in the XRCC2 gene.
Results: The results showed that there was a significant differential among CRC and controls in the genotypic and allelic frequencies (p < 0.001) of XRCC2; AGC>AGG, p.Ser150Arg. Our results demonstrated that the G allele of XRCC2; AGC>AGG, p.Ser150Arg was associated with increased CRC risk (odds ratio = 59.04, 95% confidence interval = 18.6 - 186). This variation also influenced CRC cancer susceptibility in smokers (p < 0.001).
Conclusions: The G allele of XRCC2; AGC>AGG, p.Ser150Arg, may be a potential marker for CRC in Iranians and investigations in other populations are warranted for further universal application in CRC detection and prediction.

DOI: 10.7754/Clin.Lab.2017.170717