Gene Variants rs1047972, and rs8173 Are Associated With Breast Cancer.

Purpose: Association between variants rs1047972 and rs8173 of the gene in healthy women and breast cancer (BC) in a Mexican population.

Methods: Genomic DNA samples from 409 healthy women and 572 patients with BC were analyzed for variants rs1047972 and rs8173 of the gene by polymerase chain reaction-restriction fragment length polymorphism.

Results: TT genotype (odds ratio [OR], 2.5; 95% confidence interval [CI], 1.22-5.11; = 0.0015) and the T allele (OR, 1.16; 95% CI, 1.23-2.12; = 0.0007) of the rs1047972 variant were associated as risk susceptibility for BC relative to the control group. Contrarily, the GG genotype (OR, 0.64; 95% CI, 0.43-0.94; = 0.029) was associated as a protective factor of susceptibility of BC of the variant rs8173 of the gene. Differences were observed in the patients with BC who were carriers of the CT genotype of the rs1047972 variant with overweight, obesity, estrogen receptor-positive plus obesity, Ki-67 (≥ 20%) plus history familial positive of cancer; and for variant rs8173 the BC patients who were CG carriers and presented chemotherapy gastric toxicity, hormonal receptor positive plus chemotherapy gastric toxicity, and menopause status plus chemotherapy gastric toxicity ( < 0.05). Two common haplotypes were identified in the study groups: CG and TC genotypes, were associated as a protective and risk factor, respectively ( < 0.05).

Conclusion: Variants rs1047972 and rs8173 of the gene and the TC haplotype were associated as risk susceptibility factors for BC in this population.