Association of cyclin-dependent kinase inhibitor 2A/B with increased risk of developing breast cancer

J Cell Physiol. 2020 Jun;235(6):5141-5145. doi: 10.1002/jcp.29388. Epub 2019 Nov 12.

Abstract

There is a growing body of data reporting the association of genetic alterations in chromosome 9P21 with the risk of developing cancer. In the current study, we studied the association of a genetic variant in CDKN2A/B, rs1333049, with the risk of developing breast cancer. A total of 339 participants with and without breast cancer entered to the study. Genotyping was done by the TaqMan real-time polymerase chain reaction (RT-PCR) method and gene expression analysis was ran by RT-PCR. Our data showed that the minor allele homozygote in the total population was 10%, whereas for heterozygote was 38%. The dominant genetic model demonstrated that individuals with breast cancer had advanced TNM classification. Moreover, the logistic regression revealed that individuals who had CC/CG genotypes might have an enhanced risk of developing breast cancer when compared to the holders of GG genotype (e.g., OR = 2.8; 95% CI,1.4-5.4; p = .001), after regulated for confounders; age and body mass index. Furthermore, our analysis showed that the CDKN2A/B gene was downregulated in patients (p < .001). We showed a meaningful relationship of CDKN2A/B with the risk of breast cancer, cancer, showing the importance of studies in great sample size and several centers for studying the value of the marker as a risk classification in the management of patients with breast cancer.

Keywords: CDKN2A/B; breast cancer; risk marker; rs1333049.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Cyclin B / genetics
  • Cyclin-Dependent Kinase Inhibitor p15 / genetics*
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics*
  • Female
  • Gene Expression Regulation, Neoplastic / genetics
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics
  • Risk Factors

Substances

  • Cyclin B
  • Cyclin-Dependent Kinase Inhibitor p15
  • Cyclin-Dependent Kinase Inhibitor p16