Polymorphisms of the XRCC1 gene and breast cancer risk in the Mexican population


The purpose of this case–control study was to evaluate the association of XRCC1 Arg194Trp and Arg399Gln polymorphisms with susceptibility to breast cancer (BC) in a Mexican population. We analysed DNA samples from 345 BC patients and 352 control subjects by polymerase chain reaction-restriction fragment length polymorphism. The frequency of the 399Gln allele was 23 % in controls and 29 % in patients [OR 1.38 (1.08–1.76); p = 0.01]; genotypes in controls were 60, 36, and 4 % for Arg/Arg, Arg/Gln, and Gln/Gln, respectively, while in patients they were 53, 36, and 11 % [OR 2.71 (1.44–5.10); p = 0.0015 for the Gln/Gln genotype]. Regarding the Arg194Trp polymorphism, the frequency of Trp allele was 15 % in controls and 16 % in patients [OR 1.09 (0.82–1.46); p = 0.54]; the genotype frequencies in controls were 74, 23, and 3 % for Arg/Arg, Arg/Trp and Trp/Trp, respectively, while in patients these were 73, 23, and 4 % [OR 1.41 (0.64–3.14); p = 0.39 for the Trp/Trp genotype]. Allele frequencies were consistent with Hardy–Weinberg equilibrium (p = 0.20 for Arg194Trp and p = 0.54 for Arg399Gln). Our results indicate that the 399Gln polymorphism is associated with an increased risk of BC. Additionally, we found that some covariates increase the risk of BC in Mexican women; namely, antecedent of abortions [OR 3.69 (2.17–6.27); p < 0.001], not breastfeeding [OR 2.46 (1.45–4.18); p = 0.001], family history of BC [OR 15.9 (5.09–50.23); p < 0.001], other type of family cancer [OR 31.5 (12.5–79.3); p < 0.001], alcoholism [OR 17.7 (5.2–60.42); p < 0.001], type 2 diabetes mellitus [OR 2.28 (1.26–4.10); p = 0.007], and contraceptive use [OR 2.28 (1.26–4.10); p < 0.001].

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Research supported by Universidad Autónoma de Tamaulipas through grant UAT10-SAL-0306.

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There are no conflicts of interest.

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The study was approved by the institutional Ethics Committee, and written consent was obtained from each participant before enrolling into the study, together with a complete medical history.

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Correspondence to Evelia Leal-Ugarte.

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Macías-Gómez, N.M., Peralta-Leal, V., Meza-Espinoza, J.P. et al. Polymorphisms of the XRCC1 gene and breast cancer risk in the Mexican population. Familial Cancer 14, 349–354 (2015). https://doi.org/10.1007/s10689-015-9787-y

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  • Breast cancer
  • XRCC1 gene
  • Polymorphisms
  • Risk factors