XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.

In the base excision repair pathway, the predominant DNA damage repair mechanism, X-ray repair cross-complementing group 1 (XRCC1) gene, has a crucial role. Defects in repair pathways are involved in cancer pathogenesis. Therefore, DNA repair genes might be involved in acute myeloid leukemia (AML) susceptibility. Our study aimed to evaluate the relationship between XRCC1 Arg194Trp, Arg280His and Arg399Gln polymorphisms and AML. Sixty-nine patients with AML and 147 healthy controls were included. We noted a significant association between the polymorphisms Arg194Trp (p-value = 0.0002 for Trp allele) and Arg399Gln (p-value = 0.003 for Gln allele) and AML risk. There was a significantly better overall survival among patients with AML with wild-type homozygous compared to those with at least one variant allele in the case of Arg194Trp (p-value = 0.0019) and Arg399Gln polymorphisms (p-value = 0.049). Our study suggests the involvement of XRCC1 Arg194Trp and Arg399Gln polymorphisms in the genetic predisposition to AML. These two XRCC1 polymorphisms could also be prognostic markers in AML as they were significantly associated with overall survival.