Version 1
: Received: 30 July 2024 / Approved: 1 August 2024 / Online: 1 August 2024 (10:59:25 CEST)
How to cite:
Ong, S. S.; Ho, P. J.; Khng, A. J.; Tan, B. K. T.; Tan, Q. T.; Tan, E. Y.; Tan, S.-M.; Putti, T. C.; Lim, S. H.; Tang, E. L. S.; Li, J.; Hartman, M. Genomic Insights into Idiopathic Granulomatous Mastitis through Whole Exome Sequencing: A Case Report of Eight Patients. Preprints2024, 2024080010. https://doi.org/10.20944/preprints202408.0010.v1
Ong, S. S.; Ho, P. J.; Khng, A. J.; Tan, B. K. T.; Tan, Q. T.; Tan, E. Y.; Tan, S.-M.; Putti, T. C.; Lim, S. H.; Tang, E. L. S.; Li, J.; Hartman, M. Genomic Insights into Idiopathic Granulomatous Mastitis through Whole Exome Sequencing: A Case Report of Eight Patients. Preprints 2024, 2024080010. https://doi.org/10.20944/preprints202408.0010.v1
Ong, S. S.; Ho, P. J.; Khng, A. J.; Tan, B. K. T.; Tan, Q. T.; Tan, E. Y.; Tan, S.-M.; Putti, T. C.; Lim, S. H.; Tang, E. L. S.; Li, J.; Hartman, M. Genomic Insights into Idiopathic Granulomatous Mastitis through Whole Exome Sequencing: A Case Report of Eight Patients. Preprints2024, 2024080010. https://doi.org/10.20944/preprints202408.0010.v1
APA Style
Ong, S. S., Ho, P. J., Khng, A. J., Tan, B. K. T., Tan, Q. T., Tan, E. Y., Tan, S. M., Putti, T. C., Lim, S. H., Tang, E. L. S., Li, J., & Hartman, M. (2024). Genomic Insights into Idiopathic Granulomatous Mastitis through Whole Exome Sequencing: A Case Report of Eight Patients. Preprints. https://doi.org/10.20944/preprints202408.0010.v1
Chicago/Turabian Style
Ong, S. S., Jingmei Li and Mikael Hartman. 2024 "Genomic Insights into Idiopathic Granulomatous Mastitis through Whole Exome Sequencing: A Case Report of Eight Patients" Preprints. https://doi.org/10.20944/preprints202408.0010.v1
Abstract
Idiopathic granulomatous mastitis (IGM) is a rare condition characterised by chronic inflammation and granuloma formation in the breast. 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 altered 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. These observations suggest that IGM may be influenced by non-genetic factors, such as environmental triggers or immune system dysregulation, rather than being primarily a genetic disorder.
Keywords
breast pathology; breast abscess; suppurative breast lesion; tuberculous mastitis; breast cancer; mastitis; idiopathic granulomatous mastitis; somatic mutations; pathogenic mutations; whole-exome sequencing
Subject
Medicine and Pharmacology, Obstetrics and Gynaecology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
