Prediction of Intraductal Carcinomas of the Breast That Will Not Evolve to Invasive Carcinomas

Ductal carcinoma in situ (DCIS) of the breast is a malignant neoplastic proliferation of cells with a ductal phenotype, which is confined to the epithelial compartment of ducts and acini. DCIS is regarded as a nonobligate precursor of invasive ductal carcinoma (IDC) of the breast. Currently it is not possible to predict which DCIS will progress to IDC, and so the vast majority of patients with DCIS undergo surgical resection and radiation therapy. DCIS and IDC share most of the genetic alterations, including somatic mutations, genetic expression profiles and genetic copy number alterations. Our aim was to find a genetic mutational profile that could help to predict which DCIS will progress to IDC and which will not. Individuals with a predicted probability of DCIS synchronous with IDC of 0.5 or lower were found to be those with a mutation in 38138689 (POSTN), and no mutation in either 151851109 (KMT2C), 187524525 (FAT1) or 55139771 (PDGFRA).