Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CNS metastases
CUI: C0686377
Disease: CNS metastases
0.060 GeneticVariation BEFREE Osimertinib is a third-generation, irreversible, oral epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) that potently and selectively inhibits both EGFR sensitizing mutation and EGFR T790M and has demonstrated efficacy in non-small cell lung cancer (NSCLC) central nervous system metastases. 31345012 2020
CNS metastases
CUI: C0686377
Disease: CNS metastases
0.060 GeneticVariation BEFREE The EGFR T790M mutation in plasma cfDNA is a sensitive marker for EGFR TKI resistance when CNS metastases progressed. 31161597 2019
CNS metastases
CUI: C0686377
Disease: CNS metastases
0.060 GeneticVariation BEFREE Compared with chemotherapy, molecular testing in plasma and tissue followed by osimertinib treatment yielded an additional 0.359 and 0.313 QALYs in the entire U.S. population and the population of those with central nervous system metastases and an EGFR T790M mutation. 29101057 2018
CNS metastases
CUI: C0686377
Disease: CNS metastases
0.060 GeneticVariation BEFREE Osimertinib had significantly greater efficacy than platinum therapy plus pemetrexed in patients with T790M-positive advanced non-small-cell lung cancer (including those with CNS metastases) in whom disease had progressed during first-line EGFR-TKI therapy. 27959700 2017
CNS metastases
CUI: C0686377
Disease: CNS metastases
0.060 GeneticVariation BEFREE Here we report two cases of gefitinib- or erlotinib-pretreated NSCLCs with a T790M mutation-positive (as assessed on plasma through the therascreen EGFR test) disease and untreated, asymptomatic central nervous system metastases that responded to treatment with osimertinib. 27177916 2016
CNS metastases
CUI: C0686377
Disease: CNS metastases
0.060 GeneticVariation BEFREE We analyzed DNA samples isolated from paraffin-embedded tissue from CNS metastases for T790M mutations using real-time PCR and TaqMan probe against the T790M mutant sequence. 24789720 2014