Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis

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dc.authorscopusidZeynep Ocak / 26637163700
dc.authorwosidZeynep Ocak / LSP-6735-2024
dc.contributor.authorÖzçınar, Beyza
dc.contributor.authorOcak, Zeynep
dc.contributor.authorBillur, Deryanaz
dc.contributor.authorErtuğrul, Barış
dc.contributor.authorTimirci Kahraman, Özlem
dc.date.accessioned2025-04-18T08:43:24Z
dc.date.available2025-04-18T08:43:24Z
dc.date.issued2025
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.description.abstractGranulomatous mastitis (GM) is a rare, benign, but chronic and recurrent inflammatory breast disease that significantly impacts physical and psychological well-being. It often presents symptoms such as pain, swelling, and discharge, leading to diagnostic confusion with malignancy. The etiology of GM remains unclear, though autoimmune and multifactorial components are suspected. This study aimed to explore the genetic underpinnings of GM using whole-exome sequencing (WES) on 22 GM patients and 52 healthy controls to identify single nucleotide variants (SNVs) and copy number variations (CNVs) potentially linked to the disease. WES analysis revealed novel SNVs in six genes: BRCA2 (rs169547), CFTR (rs4727853), NCF1 (rs10614), PTPN22 (rs2476601), HLA-DRB1 (seven variants), and C3 (rs406514). Notably, most of these variants are associated with immune regulation and inflammatory pathways, supporting the hypothesis that GM is an autoimmune disease. However, all identified variants were classified as benign according to the American College of Medical Genetics and Genomics (ACMG) guidelines, necessitating further investigation into their potential functional effects. Despite conducting CNV analysis, no significant variations were identified. This study represents a foundational step in linking genetic predisposition to GM and highlights the need for integrating genetic, clinical, and functional data to better understand GM’s pathophysiology. Future research should focus on larger cohorts, functional studies, and exploring multifactorial contributors to GM, including hormonal and environmental factors. © 2025 by the authors.
dc.description.sponsorshipThis study included 22 female patients diagnosed with idiopathic GM and 52 age- (37.18 \u00B1 7.15 years), sex-, ethnicity-, and breastfeeding history-matched healthy female controls. Patients were recruited from the outpatient clinic of the Department of General Surgery at Istanbul University Medical Faculty. Detailed clinical histories, including any history of rheumatological disease and medication use, were obtained from all participants. Diagnosis of GM was confirmed through imaging (ultrasound, mammography, or MRI), histopathological examination, and exclusion of tuberculosis via chest imaging, PPD testing, and tuberculous quantiferon assays. This study adhered to the Declaration of Helsinki guidelines and was approved by the Institutional Ethics Committee of Istanbul University Faculty of Medicine (approval number: 2018/1515). Informed consent was obtained from all participants prior to sample collection. The project was supported by the Scientific Research Project Coordination Unit of Istanbul University (grant number: 38474).
dc.identifier.citationOzcinar, B., Ocak, Z., Billur, D., Ertugrul, B., & Timirci-Kahraman, O. (2025). Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis. International Journal of Molecular Sciences, 26(1), 425.
dc.identifier.doi10.3390/ijms26010425
dc.identifier.issn16616596
dc.identifier.issue1
dc.identifier.scopus2-s2.0-85214517345
dc.identifier.scopusqualityQ1
dc.identifier.urihttp://dx.doi.org/10.3390/ijms26010425
dc.identifier.urihttps://hdl.handle.net/20.500.12713/6597
dc.identifier.volume26
dc.identifier.wosWOS:001393619300001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakScopus
dc.indekslendigikaynakWeb of Science
dc.institutionauthorOcak, Zeynep
dc.institutionauthoridZeynep Ocak /
dc.language.isoen
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)
dc.relation.ispartofInternational Journal of Molecular Sciences
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAutoimmune Disease
dc.subjectGenetic Variants
dc.subjectGranulomatous Mastitis
dc.subjectİnflammation
dc.subjectwhole-exome Sequencing
dc.titleWhole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis
dc.typeArticle

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