Genotypes and Haplotypes in the AXIN2 and TCF7L2 Genes are Associated With Susceptibility and With Clinicopathological Characteristics in Breast Cancer Patients

Br J Biomed Sci. 2022 Jan 25:79:10211. doi: 10.3389/bjbs.2021.10211. eCollection 2022.

Abstract

Background: Breast cancer is a multifactorial disease whose genetic susceptibility is related to polymorphic variants of cell proliferation and migration pathways. Variants in AXIN2 and TCF7L2 in the Wnt-β catenin pathway have been associated with different types of cancer; however, little is known about its role in breast cancer. This study tests the hypothesis of links between AXIN2 rs1133683 and rs2240308, and TCF7L2 rs7903146 and rs12255372 variants in breast cancer. Methods: Peripheral blood samples were obtained from 404 women (202 patients and 202 control females). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology was used to identify the gene variants. Results: The AXIN2 rs2240308 (C > T), and TCF7L2 rs7903146 (C > T) and rs12255372 (G > T) variants were associated with breast cancer and with age, TNM stage, and histologic-molecular subtype (p = 0.001). Likewise, the haplotype T-T in the TCF7L2 gene (rs7903146-rs12253372) was significantly related with breast cancer (OR = 2.66, 95%, CI = 1.64-4.30, p = 0.001). Conclusion: Our data show a link between AXIN2 rs2240308 and TCF7L2 rs7903146 and rs12255372 variants in breast cancer, and speculate this may be important in pathogenesis.

Keywords: AXIN2; TCF7L2; breast cancer; genotypes; haplotypes; susceptibility.

MeSH terms

  • Axin Protein* / genetics
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / pathology
  • Case-Control Studies
  • Diabetes Mellitus, Type 2* / genetics
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes
  • Humans
  • Polymorphism, Single Nucleotide
  • Transcription Factor 7-Like 2 Protein* / genetics

Substances

  • AXIN2 protein, human
  • Axin Protein
  • TCF7L2 protein, human
  • Transcription Factor 7-Like 2 Protein