Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519816
rs1057519816
0.710 GeneticVariation BEFREE The tumor was found to harbor both EGFR L858R and ERBB2 S310F alterations and also tested positive for a known TP53 germline mutation. 24835218

2014

dbSNP: rs28933369
rs28933369
A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs1057519816
rs1057519816
T 0.710 GeneticVariation CLINVAR Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2. 22908275

2012

dbSNP: rs1057519816
rs1057519816
A 0.710 GeneticVariation CLINVAR Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2. 22908275

2012

dbSNP: rs28933369
rs28933369
0.710 GeneticVariation BEFREE In both spontaneous and DMBA studies, onset of palpable tumors was delayed in G60S mice compared with mice in control groups. 21151177

2011

dbSNP: rs1136201
rs1136201
0.050 GeneticVariation BEFREE Analysis on clinico-pathological parameters showed neither HER2 Ile655Val nor PTEN IVS4 genotypes were not associated with any of the variables (p > 0.05).In conclusion, our findings suggest that the Ile/Val genotype of HER2 and ATCTT insertion (+/+) genotype of PTEN IVS4 gene may play an important role as genetic markers for breast cancer risk, but both genes genotypes may not be useful for predicting tumor prognosis in Turkish population. 23086302

2013

dbSNP: rs1136201
rs1136201
0.050 GeneticVariation BEFREE These two SNPs also showed no association with any clinical parameters, except the association of HER2 Ile(655)Val with tumor size (p = 0.002). 19929405

2010

dbSNP: rs1136201
rs1136201
0.050 GeneticVariation BEFREE Tumor status was found significantly associated with HER2 I655V as well as with two previously studied markers in the thyroid hormone receptor A and estrogen receptor 1 (ESR1) genes (D17S2189 and D6S440, respectively). 19860576

2009

dbSNP: rs1136201
rs1136201
0.050 GeneticVariation BEFREE They also provide clinical evidence for a significant association between HER-2 Ile655Val SNP and serum TGF-I(2)1, resulting to more aggressive phenotype of the tumor and poor prognosis. 18348656

2008

dbSNP: rs1136201
rs1136201
0.050 GeneticVariation BEFREE To examine the impact of a frequent her2 gene polymorphism (Ile655Val) on tumor growth and on the pharmacodynamics of treatment by trastuzumab. 17693647

2007

dbSNP: rs372043866
rs372043866
0.040 GeneticVariation BEFREE There was no difference for the proportion of the 2 most frequent EGFR mutations (exon 19 deletion and L858R mutation) (P=0.85) or KRAS-mutated codon (P=0.22) between tumors in younger or older patients. 30095461

2019

dbSNP: rs372043866
rs372043866
0.040 GeneticVariation BEFREE This uncertainty reflects the fact that most prospective clinical trials of EGFR TKIs have been restricted to patients with tumor harboring common (Del19 or L858R) mutations. 31558282

2019

dbSNP: rs372043866
rs372043866
0.040 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
0.040 GeneticVariation BEFREE The tumor was found to harbor both EGFR L858R and ERBB2 S310F alterations and also tested positive for a known TP53 germline mutation. 24835218

2014

dbSNP: rs121913468
rs121913468
0.030 GeneticVariation BEFREE In mice, xenografts established from a patient whose HER2-positive tumor acquired a D769Y mutation in HER2 after progression on trastuzumab-based therapy were resistant to trastuzumab or lapatinib but were sensitive to neratinib. 30301790

2018

dbSNP: rs121913468
rs121913468
0.030 GeneticVariation BEFREE One of the HER2 amplified tumors harbored a D769N mutation in exon 19 of the HER2 gene; all other tested tumors were wild type. 25809292

2015

dbSNP: rs121913468
rs121913468
0.030 GeneticVariation BEFREE As part of the workup, the tumor was analyzed by a 50-gene targeted mutation panel, which detected 3 somatic mutations: ERBB2 (HER2) D769H activating missense mutation, TP53 Y126 inactivating truncating mutation, and SMARCB1 R374Q missense mutation. 26285240

2015

dbSNP: rs1284110310
rs1284110310
0.020 GeneticVariation BEFREE Furthermore, we observe an in vivo reduction in tumor size of gallbladder xenografts in response to Afatinib is paralleled by a reduction in the amounts of phospho-ERK, in tumors harboring KRAS (G13D) mutation but not in KRAS (G12V) mutation, supporting an essential role of the ErbB pathway. 30304546

2019

dbSNP: rs749539903
rs749539903
0.020 GeneticVariation BEFREE Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry. 28123607

2017

dbSNP: rs749539903
rs749539903
0.020 GeneticVariation BEFREE Compared to MMTV-Her-2 transgenic mouse mammary tumors, H1047R tumors showed increased upregulation of Wnt/β-catenin/Axin2, hepatocyte growth factor (Hgf)/Stat3, insulin-like growth factor 2 (Igf-2), and Igf-1R pathways. 28296140

2017

dbSNP: rs1284110310
rs1284110310
0.020 GeneticVariation BEFREE Here, we show that simultaneous overexpression of the mitotic checkpoint protein Mad2 with Kras(G12D) or Her2 in mammary glands of adult mice results in mitotic checkpoint overactivation and a delay in tumor onset. 27292643

2016

dbSNP: rs1057519738
rs1057519738
0.010 GeneticVariation BEFREE Introduction of the ERBB2 mutations encoding protein variants S310F, S423R, R678Q, Q679L, E717D, L755S, V777L and V842I into human pancreatic epithelial cells causes oncogenic transformation, increasing ERBB2 signaling, anchorage-independent cell growth and tumor xenograft growth in nude mice, demonstrating that they are activating mutations. 31046123

2020

dbSNP: rs1308088661
rs1308088661
0.010 GeneticVariation BEFREE In another case, EML4-ALK fusion detected in the primary tumor was associated with ALK G1202R secondary resistance mutation in the post-treatment metastasis. 30946933

2019

dbSNP: rs772604432
rs772604432
0.010 GeneticVariation BEFREE A PIK3CA T1035A mutation present in a BC-PDX tumor was confirmed in isolated single CTCs and cells from dissociated metastatic nodules after whole genome amplification and sequencing. 30871481

2019

dbSNP: rs959969530
rs959969530
0.010 GeneticVariation BEFREE A PIK3CA T1035A mutation present in a BC-PDX tumor was confirmed in isolated single CTCs and cells from dissociated metastatic nodules after whole genome amplification and sequencing. 30871481

2019