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      Potential Role of Zinc Finger 365 rs10822013 and rs10995190 in Mammographic Density, Sporadic Breast Cancer Risk, and Prognosis

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          Abstract

          Background:

          Despite suggesting many genetic risk markers as the outcome of Genome-wide association studies (GWAS) for breast cancer, replicating the results in different populations has remained the main issue. In this regard, this study assessed the association of two variations in Zinc Finger 365 ( ZNF365) in an Iranian population.

          Methods:

          In a case-control study conducted at Mashhad University of Medical Sciences, Mashhad, Iran, between 2017 and 2020, ZNF365- rs10822013 and rs10995190 were genotyped using Allele-Specific PCR (AS-PCR). Breast density was assessed using mammography images. PHASE software module version 2 and SPSS version 16.0 were used for haplotype and statistical analyses. Quantitative and qualitative variables were compared between groups using independent t tests and Chi square tests, respectively. Binary logistic regression analysis was performed to calculate odds ratios. Multivariate analysis was then undertaken for the baseline variables, with a P<0.05 in the univariate analysis. The survival analysis was performed using the Kaplan-Meier method and the log-rank test.

          Results:

          In this survey, 732 females, including 342 breast cancer patients and 390 healthy subjects, were enrolled. rs10822013-T allele (P=0.014), rs10995190-G allele (P=0.003), and TG haplotype (P=0.002) were significantly associated with the increased risk of breast cancer. Moreover, rs10995190-GG genotype (P=0.042) and C-G haplotype (P=0.019) revealed a significant association with better overall survival. However, considered polymorphisms and their haplotypes indicated no association with breast density and clinical features of breast cancer.

          Conclusion:

          ZNF365 variants might be a potential risk marker of breast cancer in the Iranian population. The interaction between alleles in haplotypes may modulate the amount of the risk conferred by these variants. Further studies on different ethnic groups can validate these results.

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          Most cited references35

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          Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update.

          Antonio Wolff, M Hammond, David G Hicks … (2013)
          To update the American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAP) guideline recommendations for human epidermal growth factor receptor 2 (HER2) testing in breast cancer to improve the accuracy of HER2 testing and its utility as a predictive marker in invasive breast cancer. ASCO/CAP convened an Update Committee that included coauthors of the 2007 guideline to conduct a systematic literature review and update recommendations for optimal HER2 testing. The Update Committee identified criteria and areas requiring clarification to improve the accuracy of HER2 testing by immunohistochemistry (IHC) or in situ hybridization (ISH). The guideline was reviewed and approved by both organizations. The Update Committee recommends that HER2 status (HER2 negative or positive) be determined in all patients with invasive (early stage or recurrence) breast cancer on the basis of one or more HER2 test results (negative, equivocal, or positive). Testing criteria define HER2-positive status when (on observing within an area of tumor that amounts to > 10% of contiguous and homogeneous tumor cells) there is evidence of protein overexpression (IHC) or gene amplification (HER2 copy number or HER2/CEP17 ratio by ISH based on counting at least 20 cells within the area). If results are equivocal (revised criteria), reflex testing should be performed using an alternative assay (IHC or ISH). Repeat testing should be considered if results seem discordant with other histopathologic findings. Laboratories should demonstrate high concordance with a validated HER2 test on a sufficiently large and representative set of specimens. Testing must be performed in a laboratory accredited by CAP or another accrediting entity. The Update Committee urges providers and health systems to cooperate to ensure the highest quality testing. This guideline was developed through a collaboration between the American Society of Clinical Oncology and the College of American Pathologists and has been published jointly by invitation and consent in both Journal of Clinical Oncology and the Archives of Pathology & Laboratory Medicine. Copyright © 2013 American Society of Clinical Oncology and College of American Pathologists.
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            Incidence and Mortality and Epidemiology of Breast Cancer in the World.

            Hamid Salehiniya, Zahra pournamdar, Mahshid Ghoncheh (2016)
            Breast cancer is the most common malignancy in women around the world. Information on the incidence and mortality of breast cancer is essential for planning health measures. This study aimed to investigate the incidence and mortality of breast cancer in the world using age-specific incidence and mortality rates for the year 2012 acquired from the global cancer project (GLOBOCAN 2012) as well as data about incidence and mortality of the cancer based on national reports. It was estimated that 1,671,149 new cases of breast cancer were identified and 521,907 cases of deaths due to breast cancer occurred in the world in 2012. According to GLOBOCAN, it is the most common cancer in women, accounting for 25.1% of all cancers. Breast cancer incidence in developed countries is higher, while relative mortality is greatest in less developed countries. Education of women is suggested in all countries for early detection and treatment. Plans for the control and prevention of this cancer must be a high priority for health policy makers; also, it is necessary to increase awareness of risk factors and early detection in less developed countries.
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              A new statistical method for haplotype reconstruction from population data.

              Matthew Stephens, Nicholas J Smith, Peter Donnelly (2001)
              Current routine genotyping methods typically do not provide haplotype information, which is essential for many analyses of fine-scale molecular-genetics data. Haplotypes can be obtained, at considerable cost, experimentally or (partially) through genotyping of additional family members. Alternatively, a statistical method can be used to infer phase and to reconstruct haplotypes. We present a new statistical method, applicable to genotype data at linked loci from a population sample, that improves substantially on current algorithms; often, error rates are reduced by > 50%, relative to its nearest competitor. Furthermore, our algorithm performs well in absolute terms, suggesting that reconstructing haplotypes experimentally or by genotyping additional family members may be an inefficient use of resources.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Iran J Med Sci
                Journal ID (iso-abbrev): Iran J Med Sci
                Title: Iranian Journal of Medical Sciences
                Publisher: Shiraz University of Medical Sciences (Iran )
                ISSN (Print): 0253-0716
                ISSN (Electronic): 1735-3688
                Publication date Collection: November 2023
                Publication date (Electronic): 01 November 2023
                Volume: 48
                Issue: 6
                Pages: 551-562
                Affiliations
                [1 ] Department of Genetics, School of Sciences, Azad University of Damghan, Damghan, Iran
                [2 ] Lung Cancer and Immuno- Oncology Laboratory (LCIO), Jules Bordet Institute, Université Libre de Bruxelles, Brussels, Belgium
                [3 ] Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran
                [4 ] Recombinant Protein Research Group, Research Institute of Biotechnology, Ferdowsi University of Mashhad, Mashhad, Iran
                [5 ] Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Science, Mashhad, Iran
                [6 ] Reza Radiotherapy and Oncology Center, Mashhad, Iran
                [7 ] Cancer Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
                [8 ] Division of Applied Medicine, School of Medicine, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK
                [9 ] Clinical Research Development Unit, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
                Author notes
                Corresponding author: Fahimeh Afzaljavan, PhD; Clinical Research Development Unit, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, P.O. Box: 917794-8564, Mashhad, Iran Tel: +98 51 38002310 Email: afzaljf991@ 123456mums.ac.ir
                Article
                Publisher ID: IJMS-48-6
                DOI: 10.30476/IJMS.2023.96141.2767
                PMC ID: 10715120
                PubMed ID: 38094285
                SO-VID: 8fe7231e-bebb-431a-9760-d518f47550dc
                Copyright © Copyright: © Iranian Journal of Medical Sciences
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-NoDerivatives 4.0 International License. This license allows reusers to copy and distribute the material in any medium or format in unadapted form only, and only so long as attribution is given to the creator. The license allows for commercial use.

                History
                Date revision received : 08 November 2022
                Date accepted : 17 December 2022
                Date received : 23 July 2022
                Categories
                Subject: Original Article

                ScienceOpen disciplines: Medicine
                Keywords: breast neoplasms, mammographic density, zinc finger 365, prognosis, survival
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: breast neoplasms, mammographic density, zinc finger 365, prognosis, survival

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