Breast cancer-related single-nucleotide polymorphism and their risk contribution in Mexican women

J Cancer Res Ther. 2020 Oct-Dec;16(6):1279-1286. doi: 10.4103/jcrt.JCRT_14_20.

Abstract

Context: Four single-nucleotide polymorphisms (SNPs) in Mexican patients and their association with the development of breast cancer (BC).

Aims: This work is focused on determining the association of fibroblast growth factor receptor (rs12196489), TOX3 (rs3803662), human telomerase reverse transcriptase (h TERT, rs10069690), and FTO (rs17817449) polymorphisms and BC in a cohort of Mexican women.

Settings and design: The study included 56 patients with a confirmed diagnosis of BC and 83 controls. Clinical characteristics were obtained from medical records.

Subjects and methods: Genomic DNA from the samples was obtained from lymphocytes, and the genotyping of rs12196489, rs3803662, rs10069690, and rs17817449 polymorphisms was performed by real-time polymerase chain reaction using specific TaqMan probes. Statistical analysis was assessed to evaluate the distribution of genotype frequencies between cases and controls.

Statistical analysis: We used the STATA Statistical Package (version 10.1; STATA Corp., College Station, TX, USA). Student's t-test, χ2 test, or Fisher's exact test was used to evaluate the distribution of genotype frequencies.

Results: No statistical differences in allelic and genotypic frequencies were found between patients with BC and controls for SNPs: rs1219648, rs3803662, and rs17817449. Interestingly, according to the χ2 test, a significant difference was exhibited for rs10069690 (odds ratio = 0.095; 95% confidence interval = 0.038-0.214; P < 0.001).

Conclusions: The h TERT (rs10069690) polymorphism might be associated with BC in Mexican women. Nevertheless, additional studies in a larger cohort are required to confirm this association and to possibly use this polymorphism as a potential biomarker in the early diagnosis of BC.

Keywords: Breast cancer; Mexican population; cancer risk factors; genetic polymorphisms; human telomerase reverse transcriptase.

MeSH terms

  • Adult
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO / genetics
  • Apoptosis Regulatory Proteins / genetics
  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics*
  • Breast Neoplasms / blood
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Case-Control Studies
  • Cohort Studies
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Mexico / epidemiology
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Telomerase / genetics
  • Trans-Activators / genetics

Substances

  • Apoptosis Regulatory Proteins
  • Biomarkers, Tumor
  • TOX3 protein, human
  • Trans-Activators
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO
  • FTO protein, human
  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2
  • TERT protein, human
  • Telomerase