|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ile655Val polymorphism of HER-2 gene was associated with a statistically significantly increased risk of breast cancer all above in homozygotes for Val allele.
|
16416013 |
2006 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Animal studies and protein modeling suggest that the Ile655Val polymorphism located in the transmembrane domain of the HER2 protein might influence breast cancer development by altering the efficiency of homodimerization.
|
15987431 |
2005 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We genotyped the Ile655Val single nucleotide polymorphism (rs1801200) in 1271 incident breast cancer cases, and 1667 controls who were selected from the Nurses' Health Study blood cohort.
|
15970791 |
2005 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, the coding polymorphism I655V has previously been associated with an increased risk of breast cancer.
|
15743501 |
2005 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Two hundred and four cases and 138 controls were collected to investigate the association of HER-2 Ile655Val polymorphism with the risk of breast cancer development and progression in Iranian population.
|
15374636 |
2004 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although the biological role of the I655V polymorphism is not known, large independent studies of early onset breast cancer are warranted to attempt to replicate this finding.
|
14578152 |
2003 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The HER2 I655V polymorphism and breast cancer risk in Ashkenazim.
|
14569185 |
2003 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have also evaluated a Val(655)Ile single nucleotide polymorphism, which is associated with an increased risk of breast cancer, in a subset of the colorectal cancer patients and in healthy control subjects.
|
11870539 |
2002 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recent studies indicated an association between the Ile to Val polymorphism at codon 655 of HER-2 and susceptibility to breast cancer.
|
11857355 |
2002 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, the opposing effects of the neu* activating oncogenic point mutation and the Val-655-->Ile single-nucleotide polymorphism shown to be linked to reduced risk of breast cancer are explained in terms of shifts in the equilibrium between the active and inactive states of erbB2 in vivo.
|
12461170 |
2002 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A single-nucleotide polymorphism (SNP) at codon 655, resulting in a G-to-A transition (Ile655Val) in the transmembrane domain-coding region of this gene has been associated with an increased risk of breast cancer, particularly among younger women.
|
12166652 |
2002 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this analysis, we measured the association between the Ile(655)Val variant and postmenopausal breast cancer among women participating in the Hawaii and Los Angeles Multiethnic Cohort.
|
11731415 |
2001 |
|
rs1136201
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Genomic DNA from 339 patients with breast cancer and 361 healthy control subjects was examined for the Val(655)Ile polymorphism with a polymerase chain reaction-restriction fragment-length polymorphism-based assay.
|
10699071 |
2000 |
|
rs1058808
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Pro1170Ala polymorphism is one of the most common polymorphisms of human epidermal growth factor receptor 2 (HER2) and may affect the clinical outcome in breast cancer.
|
28529593 |
2017 |
|
rs749539903
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This derivative showed low micromolar cytotoxic potency in all BrCa cell lines, a mild inhibition of the PI3Kα wild type and H1047R mutated enzyme and excellent pharmacokinetic parameters following oral and intraperitoneal administration at the designed dose of 10 mg/kg, with absence of in vivo phenotypic toxicity.
|
28006668 |
2017 |
|
rs749539903
|
|
|
0.040 |
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 |
|
rs1058808
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The underlying link between the Ala1170Pro SNP and HER2 positivity is not known, nor is the significance of HER2 overexpression and loss of heterozygosity in breast cancer.
|
26773371 |
2016 |
|
rs1058808
|
|
|
0.040 |
GeneticVariation |
BEFREE |
HER2 rs1058808 and rs2517956 polymorphisms are associated with its protein expression in breast cancer.
|
26323365 |
2015 |
|
rs749539903
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively.
|
25027743 |
2014 |
|
rs1058808
|
|
|
0.040 |
GeneticVariation |
BEFREE |
ERBB2 Ala1170Pro was not associated with breast cancer susceptibility.
|
23900832 |
2013 |
|
rs749539903
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In trastuzumab-resistant BT474 H1047R breast cancer xenografts, NVP-BEZ235 inhibited PI3K signaling and had potent antitumor activity.
|
18829560 |
2008 |
|
rs121913470
|
|
|
0.030 |
GeneticVariation |
BEFREE |
L755S, a HER2 kinase domain mutation, is the most common HER2 mutation in breast cancer associated with resistance to anti-HER2 trastuzumab treatment.
|
31135266 |
2019 |
|
rs121913471
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, we presented a heavy pretreated and harbored HER2 V777L mutation de novo stage IV Luminal B (HER2 unamplified) breast cancer patient who achieved an unexpected good response to trastuzumab combined with vinorelbine therapy.
|
31118664 |
2019 |
|
rs121913470
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Although afatinib, neratinib, and osimertinib were shown to be effective against most of the <i>ERBB2</i> mutations, only osimertinib demonstrated good efficacy against L755P and L755S mutations, the most common mutations in breast cancer.
|
29967253 |
2018 |
|
rs121913470
|
|
|
0.030 |
GeneticVariation |
BEFREE |
HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2<sup>+</sup> Breast Cancer.
|
28487443 |
2017 |