Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis

Up to date, our study is the first whole exome sequencing study of IGM patients which aims to find out the rare variants related to etiopathogenesis of the disease. We identified 141 single nucleotide variants of 100 genes, and most of these variants were found in innate immunity-related genes. The current study provides clues for identifying the etiologic factors and designing further functional studies in this rare disease with unknown etiopathogenesis. Key Points •Autoimmunity/autoinflammation-related genetic factors are blamed for etiopathogenesis of idiopathic granulomatous mastitis (IGM). •Mutation in genes related to innate immunity, especially in macrophage functions and phagocytosis, may lead to IGM susceptibility. •Potential candidate genes for genetic susceptibility to IGM may shed light for new treatment options.