Institution: | 1. Department of Medical Biochemistry, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;2. Metabolic Syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
Farzaneh Pouya contributed as first author.;3. Department of Pathology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;4. Cellular and Molecular Research Center, Urmia University of Medical Sciences, Urmia, Iran;5. Metabolic Syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran;6. Cancer Research Center, Mashhad University of Medical Sciences, Mashhad, Iran;7. Department of Medical Biochemistry, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;8. Orology Department, Emam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran;9. Department of Medical Biochemistry, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Metabolic Syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran;10. Division of Medical Education, Brighton & Sussex Medical School, Brighton, United Kingdom;11. Department of Anesthesia, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran |
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. |