Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
0.050 GeneticVariation BEFREE Drug resistance becomes inevitable due to the emergence of the second-site EGFR T790M mutation within exon 20, MET and HER2 amplification, small cell histologic transformation and rare secondary BRAF mutations. 31132355

2019

dbSNP: rs121434569
rs121434569
0.050 GeneticVariation BEFREE In 23 EGFR mutant cases with acquired resistance to targeted therapy, plasma NGS detected potential resistance mechanisms, including EGFR T790M and C797S mutations and ERBB2 amplification. 30891595

2019

dbSNP: rs121434569
rs121434569
0.050 GeneticVariation BEFREE Several mechanisms have been identified, including EGFR T790M mutation and HER2 amplification. 30295016

2018

dbSNP: rs121434569
rs121434569
0.050 GeneticVariation BEFREE Cancerous cells resist EGFR tyrosine kinase inhibitors (TKIs) through various mechanisms, the most commonly reported ones are the T790M mutation and HER2 amplification. 28754471

2017

dbSNP: rs121434569
rs121434569
0.050 GeneticVariation BEFREE Considering that osimertinib can lead to enhanced HER-2 expression on cell surface and HER-2 overexpression is a mechanism of resistance to osimertinib, this study was addressed to investigate the potential of combining osimertinib with trastuzumab emtansine (T-DM1) in order to improve the efficacy of osimertinib and delay or overcome resistance in NSCLC cell lines with EGFR activating mutation and with T790M mutation or HER-2 amplification. 29202823

2017

dbSNP: rs121913471
rs121913471
0.030 GeneticVariation BEFREE In an independent data set, 2 of 9 (22.2%) ERBB2/HER2-negative BrCa switched to ERBB2/HER2-positive with 1 BrM acquiring ERBB2/HER2 amplification and the other showing metastatic enrichment of the activating V777L ERBB2/HER2 mutation. 27926948

2017

dbSNP: rs121913471
rs121913471
0.030 GeneticVariation BEFREE This is the first report to show that HER2 V777L is coincident with HER2-amplification in breast cancers that have developed trastuzumab resistance. 27900589

2017

dbSNP: rs121913471
rs121913471
0.030 GeneticVariation BEFREE ERBB2/HER2 alterations were identified in 5 pmucBC (23 %): ERBB2 amplification was found in 3 of 3 cases (100 %) that were HER2+ by IHC and/or FISH; 1 pmucBC was negative for HER2 overexpression by IHC, but positive for amplification by CGP; and 2 pmucBC harbored the ERBB2 substitutions D769Y and V777L (one sample also featured ERBB2 amplification). 26762307

2016

dbSNP: rs1057519816
rs1057519816
0.020 GeneticVariation BEFREE Clinically, S310F is most frequent among HER2 extracellular domain mutations and patients with the S310F mutation without HER2 amplification responded to trastuzumab with or without the pertuzumab combination. 31635022

2019

dbSNP: rs1057519816
rs1057519816
0.020 GeneticVariation BEFREE The NGS revealed HER-2 amplification as well as an activating mutation S310F and PDX models tested several drugs finding that afatinib was the optimal agent with notable efficacy and well tolerance among 6 regimens. 30307354

2019

dbSNP: rs1057519847
rs1057519847
0.010 GeneticVariation BEFREE Altogether, NGS detected 12 additional variants, including six KRAS mutations, one BRAF mutation, one RET fusion, one MET amplification concurrent with EGFR L858R, one KRAS amplification together with EGFR 19del, and one ERBB2 amplification. 30885850

2019

dbSNP: rs1057519848
rs1057519848
0.010 GeneticVariation BEFREE Altogether, NGS detected 12 additional variants, including six KRAS mutations, one BRAF mutation, one RET fusion, one MET amplification concurrent with EGFR L858R, one KRAS amplification together with EGFR 19del, and one ERBB2 amplification. 30885850

2019

dbSNP: rs1057519861
rs1057519861
0.010 GeneticVariation BEFREE In 23 EGFR mutant cases with acquired resistance to targeted therapy, plasma NGS detected potential resistance mechanisms, including EGFR T790M and C797S mutations and ERBB2 amplification. 30891595

2019

dbSNP: rs121434568
rs121434568
0.010 GeneticVariation BEFREE Altogether, NGS detected 12 additional variants, including six KRAS mutations, one BRAF mutation, one RET fusion, one MET amplification concurrent with EGFR L858R, one KRAS amplification together with EGFR 19del, and one ERBB2 amplification. 30885850

2019

dbSNP: rs772092699
rs772092699
0.010 GeneticVariation BEFREE Drug resistance becomes inevitable due to the emergence of the second-site EGFR T790M mutation within exon 20, MET and HER2 amplification, small cell histologic transformation and rare secondary BRAF mutations. 31132355

2019

dbSNP: rs121909644
rs121909644
0.010 GeneticVariation BEFREE ERBB2/HER2 alterations were identified in 5 pmucBC (23 %): ERBB2 amplification was found in 3 of 3 cases (100 %) that were HER2+ by IHC and/or FISH; 1 pmucBC was negative for HER2 overexpression by IHC, but positive for amplification by CGP; and 2 pmucBC harbored the ERBB2 substitutions D769Y and V777L (one sample also featured ERBB2 amplification). 26762307

2016

dbSNP: rs121913468
rs121913468
0.010 GeneticVariation BEFREE ERBB2/HER2 alterations were identified in 5 pmucBC (23 %): ERBB2 amplification was found in 3 of 3 cases (100 %) that were HER2+ by IHC and/or FISH; 1 pmucBC was negative for HER2 overexpression by IHC, but positive for amplification by CGP; and 2 pmucBC harbored the ERBB2 substitutions D769Y and V777L (one sample also featured ERBB2 amplification). 26762307

2016

dbSNP: rs149860212
rs149860212
0.010 GeneticVariation BEFREE ERBB2/HER2 alterations were identified in 5 pmucBC (23 %): ERBB2 amplification was found in 3 of 3 cases (100 %) that were HER2+ by IHC and/or FISH; 1 pmucBC was negative for HER2 overexpression by IHC, but positive for amplification by CGP; and 2 pmucBC harbored the ERBB2 substitutions D769Y and V777L (one sample also featured ERBB2 amplification). 26762307

2016

dbSNP: rs113488022
rs113488022
0.010 GeneticVariation BEFREE Immunohistochemistry is highly specific for p.V600E, and could be used as a first-line method, as is currently performed for HER2 amplification detection. 23159108

2013

dbSNP: rs121913377
rs121913377
0.010 GeneticVariation BEFREE Immunohistochemistry is highly specific for p.V600E, and could be used as a first-line method, as is currently performed for HER2 amplification detection. 23159108

2013

dbSNP: rs780881510
rs780881510
0.010 GeneticVariation BEFREE Breast carcinoma cells with HER-2 gene amplification (21 MT-1 cells) and normal mammary epithelial cells without HER-2 gene amplification from the same patient (H16N-2 cells) were infected with pCMV-dn3 and assessed for HER-2/ HER-3 receptor tyrosine phosphorylation, p85PI 3-kinase and SHC protein activation, growth factor-dependent and -independent proliferation, and transformed growth in culture. 10768865

2000