Stage-specific protein-domain mutational profile of invasive ductal breast cancer

Abstract

Abstract Background Understanding the mechanisms underlying the malignant progression of cancer cells is crucial for early diagnosis and therapeutic treatment for cancer. Mutational heterogeneity of breast cancer suggests that about a dozen of cancer genes consistently mutate, together with many other genes mutating occasionally, in patients. Methods Using the whole-exome sequences and clinical information of 468 patients in the TCGA project data portal, we analyzed mutated protein domains and signaling pathway alterations in order to understand how infrequent mutations contribute aggregately to tumor progression in different stages. Results Our findings suggest that while the spectrum of mutated domains was diverse, mutations were aggregated in Pkinase, Pkinase Tyr, Y-Phosphatase and Src-homology 2 domains, highlighting the genetic heterogeneity in activating the protein tyrosine kinase signaling pathways in invasive ductal breast cancer. Conclusions The study provides new clues to the functional role of infrequent mutations in protein domain regions in different stages for invasive ductal breast cancer, yielding biological insights into metastasis for invasive ductal breast cancer.