ArticleBMC medical genomics2020
Stage-specific protein-domain mutational profile of invasive ductal breast cancer.
Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors at 1 institution in 1 country.
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Abstract
backgroundUnderstanding 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.
methodsUsing 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.
resultsOur 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.
conclusionsThe 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.
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