2q35-rs13387042 variant and the risk of breast cancer: a case-control study.

Autor: Nesaei A; Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran., Naderi Ghale-Noie Z; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Khorshid Shamshiri A; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Afzaljavan F; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Rivandi M; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Tajbakhsh A; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Homaei Shandiz F; Cancer Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Pasdar A; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. PasdarA@mums.ac.ir.; Division of Applied Medicine, Medical School, University of Aberdeen, Foresterhill, Aberdeen, UK. PasdarA@mums.ac.ir.; Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Scienses, Mashhad, Iran. PasdarA@mums.ac.ir.
Jazyk: angličtina
Zdroj: Molecular biology reports [Mol Biol Rep] 2022 May; Vol. 49 (5), pp. 3549-3557. Date of Electronic Publication: 2022 Apr 20.
DOI: 10.1007/s11033-022-07195-6
Abstrakt: Background: Breast Cancer is the most frequent neoplasm diagnosed among women worldwide. Genetic background and lifestyle/environment play a significant role in the disease etiology. According to Genome-wide association studies, some single-nucleotide polymorphisms such as 2q35-rs13387042-(G/A) have been introduced to be associated with breast cancer risk and features. In this study, we aimed to evaluate the association between this variant and the risk of breast cancer in a cohort of Iranian women.
Methods: Demographics and clinical information were collected by interview and using patients' medical records, respectively. DNA was extracted from 506 blood samples, including 184 patients and 322 controls, and genotyping was performed using allele specific-PCR. SPSS v16 was used for statistical analysis.
Result: Statistically significant association was observed between AA genotype and disease risk in all patients [p adj  = 0.048; OR adj  = 2.13, 95% CI (1.01-4.50)] and also ER-positive breast cancers [p adj  = 0.015; OR adj  = 2.12, 95% CI (1.16-3.88)]. There was no association between rs13387042 and histopathological characteristics of the disease. Furthermore, overall survival was not statistically associated with genotype and allelic models even after adjustment for stage and receptor status (p > 0.05).
Conclusion: There is a statistically significant association between 2q35-rs13387042 and breast cancer risk. rs13387042-AA genotype might be a risk-conferring factor for breast cancer development in the Iranian population. However, further consideration is suggested to confirm its role in risk assessment and probable association with other genetic markers.
(© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
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