Gene: ERBB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519816
rs1057519816
ERBB2
0.710 GeneticVariation BEFREE In this study, we reported the first clinical evidence of efficacy generated by afatinib, the irreversible HER family inhibitor, targeting HER2 S310Y single site mutation in lung adenocarcinoma. 29561699

2018
dbSNP: rs1057519816
rs1057519816
ERBB2
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519816
rs1057519816
ERBB2
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519787
rs1057519787
ERBB2
A 0.700 GeneticVariation CLINVAR Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2. 22908275

2012
dbSNP: rs1131692237
rs1131692237
ERBB2 ; MIR4728
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913469
rs121913469
ERBB2
CC 0.700 CausalMutation CLINVAR

dbSNP: rs397516975
rs397516975
ERBB2 ; MIR4728
AGCATACGTGATG 0.700 CausalMutation CLINVAR

dbSNP: rs587776805
rs587776805
ERBB2 ; MIR4728
GTGTGGGCTC 0.700 CausalMutation CLINVAR

dbSNP: rs372043866
rs372043866
ERBB2
0.070 GeneticVariation BEFREE Thirty-three patients with recurrent postoperative EGFR-mutant lung adenocarcinoma (exon 19 deletion in 16, L858R in 15, G719C in 2 patients) treated with gefitinib were studied. 29767258

2018
dbSNP: rs372043866
rs372043866
ERBB2
0.070 GeneticVariation BEFREE All patients were diagnosed with advanced lung adenocarcinoma and harbored EGFR 19del or L858R mutations before treatment. 30196239

2018
dbSNP: rs372043866
rs372043866
ERBB2
0.070 GeneticVariation BEFREE Expert consensus has defined minimum requirements for routine testing and identification of epidermal growth factor (EGFR) mutations (15% of tumors harbor EGFR exon 19 deletions or exon 21 L858R substitutions) and anaplastic lymphoma kinase (ALK) rearrangements (5% of tumors) in advanced lung adenocarcinomas (ACs). 26620497

2016
dbSNP: rs372043866
rs372043866
ERBB2
0.070 GeneticVariation BEFREE Compared to those with classic activating EGFR mutations, lung adenocarcinomas with exon 20 insertion mutations were characterized by significantly younger age at diagnosis (P = 0.032 for exon 20 insertions vs. L858R) and shorter relapse-free survival [P = 0.045 for exon 20 insertions versus (vs) exon 19 deletions]. 24419753

2014
dbSNP: rs372043866
rs372043866
ERBB2
0.070 GeneticVariation BEFREE EGFR exon 20 insertion testing identifies a distinct subset of lung adenocarcinomas, accounting for at least 9% of all EGFR-mutated cases, representing the third most common type of EGFR mutation after exon 19 deletions and L858R. 23371856

2013
dbSNP: rs372043866
rs372043866
ERBB2
0.070 GeneticVariation BEFREE A previously unreported mutation in exon 21 of EGFR, which leads to substitution of alanine for threonine at position 854 (T854A), was identified in one patient with a drug-sensitive EGFR L858R-mutant lung adenocarcinoma after long-term treatment with tyrosine kinase inhibitors. 19010870

2008
dbSNP: rs372043866
rs372043866
ERBB2
0.070 GeneticVariation BEFREE We have used unbiased phosphoproteomic approaches, based on quantitative mass spectrometry using stable isotope labeling with amino acids in cell culture (SILAC), to identify tyrosine phosphorylated proteins in isogenic human bronchial epithelial cells (HBECs) and human lung adenocarcinoma cell lines, expressing either of the two mutant alleles of EGFR (L858R and Del E746-A750), or a mutant KRAS allele, which are common in human lung adenocarcinomas. 18776048

2008
dbSNP: rs564064363
rs564064363
ERBB2
0.010 GeneticVariation BEFREE Three PDXs were selected for their lack of PTEN expression by immunohistochemistry: a triple-negative breast cancer (TNBC), a <i>KRAS</i> G12R low-grade serous ovarian cancer (LGSOC), and <i>KRAS</i> G12C and <i>TP53</i> R181P lung adenocarcinoma (LADC). 29156674

2017
dbSNP: rs896171398
rs896171398
ERBB2
0.010 GeneticVariation BEFREE Three PDXs were selected for their lack of PTEN expression by immunohistochemistry: a triple-negative breast cancer (TNBC), a <i>KRAS</i> G12R low-grade serous ovarian cancer (LGSOC), and <i>KRAS</i> G12C and <i>TP53</i> R181P lung adenocarcinoma (LADC). 29156674

2017
dbSNP: rs977818812
rs977818812
ERBB2
0.010 GeneticVariation BEFREE A novel somatic mutation (V659E) was also detected in the transmembrane domain of HER2 in one of 253 sporadic lung adenocarcinomas. 24317180

2014