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 |
rs28933369
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |