|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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 |
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 |
|
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 |
|
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 |
|
rs1058808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ala1170Pro polymorphism in normal breast tissue was associated with age at diagnosis (p = 0.007), tumor size (p = 0.004) and lymphovascular invasion (p = 0.06).
|
27788409 |
2016 |
|
rs121913470
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case report describes a young woman with metastatic breast cancer whose tumor was found to carry a HER2 L755S mutation, which is in the kinase domain of HER2.
|
26358790 |
2015 |
|
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 |
|
rs1416951791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 10 papillary carcinomas showed an overall lower frequency of mutations, including 1 with an AKT1 mutation (in a tumor arising from a papilloma), 1 with an NRAS gene mutation (Q61H), and 2 with PIK3CA mutations (1 overlapping with the NRAS Q61H).
|
19898424 |
2010 |
|
rs1457127715
|
|
|
0.010 |
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 |
|
rs369293607
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A KRAS G12A mutation was found in tumor removed from the finger.
|
22317887 |
2012 |
|
rs751074421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of TT genotype of Rrp1b 1307T>C polymorphism was significantly elevated in obese patients (χ (2); p = 0.008) and patients with advanced disease (χ (2); p = 0.01) and with increased tumor size (χ (2); p = 0.01).
|
25277657 |
2015 |
|
rs752295912
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IL7RA Thr244Ile was genotyped through PCR-RFLP in 403 women without neoplasia, no personal history of malignancy or family history of BC and in 338 BC patients with clinicopathological data available.
|
28964592 |
2018 |