Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
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

dbSNP: rs121434569
rs121434569
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

dbSNP: rs121434569
rs121434569
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

dbSNP: rs121434569
rs121434569
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

dbSNP: rs121434569
rs121434569
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

dbSNP: rs121434569
rs121434569
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

dbSNP: rs104893877
rs104893877
0.010 GeneticVariation BEFREE Gastrointestinal dysfunction in A53T αS mice represents an early sign of αS-driven pathology without concomitant CNS involvement. 30774946

2019

dbSNP: rs1057519847
rs1057519847
0.010 GeneticVariation BEFREE Eligible patients were aged 18 years or older (20 years or older in Japan and Taiwan) at the time of study entry, had stage IV NSCLC, with an EGFR exon 19 deletion (ex19del) or exon 21 substitution (Leu858Arg) mutation, an Eastern Cooperative Oncology Group performance status of 0 or 1, and no CNS metastases. 31591063

2019

dbSNP: rs1057519848
rs1057519848
0.010 GeneticVariation BEFREE Eligible patients were aged 18 years or older (20 years or older in Japan and Taiwan) at the time of study entry, had stage IV NSCLC, with an EGFR exon 19 deletion (ex19del) or exon 21 substitution (Leu858Arg) mutation, an Eastern Cooperative Oncology Group performance status of 0 or 1, and no CNS metastases. 31591063

2019

dbSNP: rs113488022
rs113488022
0.010 GeneticVariation BEFREE Vemurafenib as first-line therapy in <i>BRAF</i>-V600E-mutant Erdheim-Chester disease with CNS involvement. 31748352

2019

dbSNP: rs121434568
rs121434568
0.010 GeneticVariation BEFREE Eligible patients were aged 18 years or older (20 years or older in Japan and Taiwan) at the time of study entry, had stage IV NSCLC, with an EGFR exon 19 deletion (ex19del) or exon 21 substitution (Leu858Arg) mutation, an Eastern Cooperative Oncology Group performance status of 0 or 1, and no CNS metastases. 31591063

2019

dbSNP: rs121913377
rs121913377
0.010 GeneticVariation BEFREE Vemurafenib as first-line therapy in <i>BRAF</i>-V600E-mutant Erdheim-Chester disease with CNS involvement. 31748352

2019

dbSNP: rs11686903
rs11686903
0.010 GeneticVariation BEFREE Multivariate analysis showed associations between AKT1-rs3803304, AKT2-rs3730050, PDK1-rs11686903 and PI3KR1-rs706716 and CNS metastasis . 29103666

2017

dbSNP: rs3730050
rs3730050
0.010 GeneticVariation BEFREE Multivariate analysis showed associations between AKT1-rs3803304, AKT2-rs3730050, PDK1-rs11686903 and PI3KR1-rs706716 and CNS metastasis . 29103666

2017

dbSNP: rs706716
rs706716
0.010 GeneticVariation BEFREE PI3KR1-rs706716 may be associated with CNS metastasis in metastatic breast cancer patients and could be included in a predictive composite score to detect early CNS metastasis irrespective of breast cancer subtype. 29103666

2017

dbSNP: rs1057519729
rs1057519729
0.010 GeneticVariation BEFREE Using HRM and ASP-qPCR methods we identified one (0.7 %; 1/145) MEK1 substitution (Q56P) in CNS metastases of NSCLC. 26860843

2016

dbSNP: rs28933979
rs28933979
TTR
0.010 GeneticVariation BEFREE CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. 25091367

2015

dbSNP: rs267598140
rs267598140
0.010 GeneticVariation BEFREE Sensitive methods for detection of the S768R substitution in exon 18 of the DDR2 gene in patients with central nervous system metastases of non-small cell lung cancer. 25173530

2014

dbSNP: rs778199483
rs778199483
0.010 GeneticVariation BEFREE Sensitive methods for detection of the S768R substitution in exon 18 of the DDR2 gene in patients with central nervous system metastases of non-small cell lung cancer. 25173530

2014