Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.040 GeneticVariation disease BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.040 Biomarker disease BEFREE A phase Ib dose allocation study of oral administration of lucitanib given in combination with fulvestrant in patients with estrogen receptor-positive and FGFR1-amplified or non-amplified metastatic breast cancer. 30684019 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.040 GeneticVariation disease BEFREE We developed a targeted 23-amplicon next-generation sequencing (NGS) panel for detection of hot-spot mutations in ESR1, phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA), tumor protein p53 (TP53), fibroblast growth factor receptor 1 (FGFR1), and fibroblast growth factor receptor 2 (FGFR2) in 48 patients with estrogen receptor-α-positive metastatic breast cancer who were receiving systemic therapy. 25979954 2015
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.040 Biomarker disease BEFREE Dovitinib was then evaluated in a phase II trial that included 4 groups of patients with human EGF receptor 2-negative metastatic breast cancer on the basis of FGFR1 amplification and hormone receptor (HR) status. 23658459 2013