|
rs185670819
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess a potential association between rs185670819 and breast cancer, 117 patients with breast cancer and a familial history of any cancer, who were diagnosed by experienced pathologists at the Xijing Hospital (Shaanxi, China) between July 2015 and December 2016, were recruited.
|
31452768 |
2019 |
|
rs1396809633
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using the MMTV-ERBB2;mutant p53 (R175H) in vivo mouse model of ERBB2-positive breast cancer, together with mouse and human cell lines, we compared lapatinib-resistant vs. lapatinib-sensitive tumor cells biochemically and by kinome arrays and evaluated their viability in response to a variety of compounds affecting heat shock response.
|
29799521 |
2018 |
|
rs200382130
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HER2 germline mutation A270S was identified in 5395 consecutive patients with operable primary breast cancer using direct Sanger sequencing analysis.
|
30175972 |
2018 |
|
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 |
|
rs767151455
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<i>XRCC1</i> rs1799782 (C194T) polymorphism correlated with tumor metastasis and molecular subtypes in breast cancer.
|
30568466 |
2018 |
|
rs1485579458
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GLCE rs3865014 (Val597Ile) polymorphism is associated with breast cancer susceptibility and triple-negative breast cancer in Siberian population.
|
28734894 |
2017 |
|
rs759478535
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Considering this, it was investigated a possible role for CCR2-V64I (C-C chemokine receptor 2) and CCR5-Δ32 (C-C chemokine receptor 5) genetic variants in BC context.
|
25716470 |
2016 |
|
rs2517956
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HER2 rs1058808 and rs2517956 polymorphisms are associated with its protein expression in breast cancer.
|
26323365 |
2015 |
|
rs372043866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The EGFR L858R antibody gives false-positive results in most of the breast carcinomas with HER2 overexpression/amplification.
|
25390349 |
2015 |
|
rs751074421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Rrp1B gene polymorphism (1307T>C) in metastatic progression of breast cancer.
|
25277657 |
2015 |
|
rs757811990
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we investigated the association of two missense SNPs, rs3775291 (c.1234G>A) in the TLR3 gene and rs4833095 (c.743T>C) in the TLR1 gene, with relapse-free survival (RFS) in a cohort of prospectively observed breast cancer patients.
|
26226228 |
2015 |
|
rs28933368
|
|
|
0.010 |
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 |
|
rs1416532705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Comparing the prevalence of CHEK2 mutations in BC with controls revealed that carriers of an I157T variant had OR of 1.80 for luminal A subtype and carriers of truncating mutations had OR of 6.26 for luminal B subtype of BC.
|
21701879 |
2012 |
|
rs903506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In our study, we analyzed three polymorphisms in the HER2 gene: the single-nucleotide polymorphism (SNP) HER2 Ile(655)Val as well as another SNP (rs903506) close to it and a new screened dinucleotide repeat H(AC)I4 in intron 4, in a sample of 148 cases and 290 controls from the Tunisian population and investigated their association with breast cancer risk.
|
19929405 |
2010 |
|
rs778798172
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast cancer in south Indian women and TGFbeta1 Pro (Leu10Pro) allele predicts response to neo-adjuvant chemo-radiotherapy.
|
18058229 |
2008 |
|
rs747200104
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A human tumor xenograft (L56Br-X1) was established from a breast cancer axillary lymph node metastasis of a 53-year-old woman with a BRCA1 germ-line nonsense mutation (1806C>T; Q563X), and a cell line (L56Br-C1) was subsequently derived from the xenograft.
|
12649339 |
2003 |
|
rs763193414
|
|
|
0.020 |
GeneticVariation |
BEFREE |
AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients.
|
29086897 |
2018 |
|
rs763193414
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Analysis of TCGA breast cancer data revealed that the mRNA expression, total protein levels, and phosphorylation of various RTKs are decreased in human tumors harboring AKT1(E17K).
|
27004402 |
2016 |
|
rs1801200
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembrane domain-coding region of human ERBB2 gene has been previously evaluated for its association with breast cancer risk with mixed results.
|
17687647 |
2008 |
|
rs1801200
|
|
|
0.020 |
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 |
|
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 |
|
rs121913471
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In an independent data set, 2 of 9 (22.2%) ERBB2/HER2-negative BrCa switched to ERBB2/HER2-positive with 1 BrM acquiring ERBB2/HER2 amplification and the other showing metastatic enrichment of the activating V777L ERBB2/HER2 mutation.
|
27926948 |
2017 |