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The aetiology of IGM is unclear. By focusing on the protein-coding regions of the genome, where most disease-related mutations often occur, whole-exome sequencing (WES) is a powerful approach for investigating rare and complex conditions, like IGM. We report WES results on paired blood and tissue samples from eight IGM patients. Samples were processed using standard genomic protocols. Somatic variants were called with two analytical pipelines: nf-core\/sarek with Strelka2 and GATK4 with Mutect2. Our WES study of eight patients did not find evidence supporting a clear genetic component. The discrepancies between variant calling algorithms, along with the considerable genetic heterogeneity observed amongst the eight IGM cases, indicate that common genetic drivers are not readily identifiable. With only three genes, CHIT1, CEP170, and CTR9, recurrently altering in multiple cases, the genetic basis of IGM remains uncertain. The absence of validation for somatic variants by Sanger sequencing raises further questions about the role of genetic mutations in the disease. Other potential contributors to the disease should be explored.<\/jats:p>","DOI":"10.3390\/ijms25169058","type":"journal-article","created":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T05:16:24Z","timestamp":1724649384000},"page":"9058","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genomic Insights into Idiopathic Granulomatous Mastitis through Whole-Exome Sequencing: A Case Report of Eight Patients"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2065-4226","authenticated-orcid":false,"given":"Seeu Si","family":"Ong","sequence":"first","affiliation":[{"name":"Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore 138672, Singapore"},{"name":"Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peh Joo","family":"Ho","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore 138672, Singapore"},{"name":"Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore"},{"name":"Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1004-6048","authenticated-orcid":false,"given":"Alexis Jiaying","family":"Khng","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore 138672, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8573-4606","authenticated-orcid":false,"given":"Benita Kiat Tee","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of General Surgery, Sengkang General Hospital, Singapore 544886, Singapore"},{"name":"Department of Breast Surgery, Singapore General Hospital, Singapore 169608, Singapore"},{"name":"Division of Surgical Oncology, National Cancer Centre, Singapore 169610, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing Ting","family":"Tan","sequence":"additional","affiliation":[{"name":"Breast Department, KK Women\u2019s and Children\u2019s Hospital, Singapore 229899, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ern Yu","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of General Surgery, Tan Tock Seng Hospital, Singapore 308433, Singapore"},{"name":"Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore 308232, Singapore"},{"name":"Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore 138673, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su-Ming","family":"Tan","sequence":"additional","affiliation":[{"name":"Division of Breast Surgery, Changi General Hospital, Singapore 529889, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas Choudary","family":"Putti","sequence":"additional","affiliation":[{"name":"Department of Pathology, National University Health System, Singapore 119228, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swee Ho","family":"Lim","sequence":"additional","affiliation":[{"name":"Breast Department, KK Women\u2019s and Children\u2019s Hospital, Singapore 229899, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ee Ling Serene","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Surgery, Woodlands Health, Singapore 737628, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8587-7511","authenticated-orcid":false,"given":"Jingmei","family":"Li","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore 138672, Singapore"},{"name":"Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5726-9965","authenticated-orcid":false,"given":"Mikael","family":"Hartman","sequence":"additional","affiliation":[{"name":"Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore"},{"name":"Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, Singapore"},{"name":"Department of Surgery, University Surgical Cluster, National University Health System, Singapore 119228, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.12816\/0003229","article-title":"Idiopathic Granulomatous Mastitis: Diagnostic strategy and therapeutic implications in Omani patients","volume":"13","author":"Taranikanti","year":"2013","journal-title":"Sultan Qaboos Univ. 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