Gene: EGFR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2227983
rs2227983
EGFR
0.040 GeneticVariation BEFREE Evaluation of the EGFR polymorphism R497K in two cohorts of neoadjuvantly treated breast cancer patients. 29267323

2017
dbSNP: rs2227983
rs2227983
EGFR
0.040 GeneticVariation BEFREE We hypothesized that two EGFR functional polymorphisms, a (CA)n repeat in intron 1, and a single nucleotide polymorphism, R497K, may affect EGFR expression and breast cancer clinical profile. 24629097

2014
dbSNP: rs2227983
rs2227983
EGFR
0.040 GeneticVariation BEFREE In this case control study we aimed to analyze the frequency of HER1 R497K (rs 11543848) and HER2 I655V (rs 1136201) Polymorphisms in breast cancer. 23594562

2013
dbSNP: rs2227983
rs2227983
EGFR
0.040 GeneticVariation BEFREE The aim of the present study was to determine the relationship, if any, between genetic polymorphism in (ESR1) 2014G>A (T594T) and (EGFR) 142285G>A (R521K) with risk of breast cancer and the prognosis in a heterogeneous North Indian population that is known for its diverse ethnicity. 22810499

2012
dbSNP: rs1169803481
rs1169803481
EGFR
0.030 GeneticVariation BEFREE In this case control study we aimed to analyze the frequency of HER1 R497K (rs 11543848) and HER2 I655V (rs 1136201) Polymorphisms in breast cancer. 23594562

2013
dbSNP: rs1169803481
rs1169803481
EGFR
0.030 GeneticVariation BEFREE The association of HER-2/neu Ile655Val polymorphism and the risk of breast cancer was borderline significant with the heterozygous carrier being at higher risk. 18837888

2008
dbSNP: rs1169803481
rs1169803481
EGFR
0.030 GeneticVariation BEFREE Furthermore, they provide clinical evidence that HER-2 Ile655Val SNP does affect serum HER-2 levels and it can be regarded as a predictive biomarker for breast cancer patients with poor prognosis. 18237248

2008
dbSNP: rs778985185
rs778985185
EGFR
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: rs1057519847
rs1057519847
EGFR
0.020 GeneticVariation BEFREE The EGFR L858R antibody gives false-positive results in most of the breast carcinomas with HER2 overexpression/amplification. 25390349

2015
dbSNP: rs1057519848
rs1057519848
EGFR
0.020 GeneticVariation BEFREE The EGFR L858R antibody gives false-positive results in most of the breast carcinomas with HER2 overexpression/amplification. 25390349

2015
dbSNP: rs121434568
rs121434568
EGFR
0.020 GeneticVariation BEFREE The EGFR L858R antibody gives false-positive results in most of the breast carcinomas with HER2 overexpression/amplification. 25390349

2015
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.020 GeneticVariation BEFREE In conclusion, we have demonstrated for the first time that the EGFR-T790M-mutation occurs in primary human bre</span>ast cancer patients. 26267891

2015
dbSNP: rs778985185
rs778985185
EGFR
0.020 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
dbSNP: rs1057519847
rs1057519847
EGFR
0.020 GeneticVariation BEFREE Molecular analysis of the breast carcinomas that scored 2+ for L858R showed no mutation. 23599147

2013
dbSNP: rs1057519848
rs1057519848
EGFR
0.020 GeneticVariation BEFREE Molecular analysis of the breast carcinomas that scored 2+ for L858R showed no mutation. 23599147

2013
dbSNP: rs121434568
rs121434568
EGFR
0.020 GeneticVariation BEFREE Molecular analysis of the breast carcinomas that scored 2+ for L858R showed no mutation. 23599147

2013
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.020 GeneticVariation BEFREE We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed. 23407556

2013
dbSNP: rs1408630981
rs1408630981
EGFR
0.010 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
dbSNP: rs1334180707
rs1334180707
EGFR
0.010 GeneticVariation BEFREE Inhibition of VPS4B function by short hairpin VPS4B (sh-VPS4B) or expression of dominant negative VPS4B(E235Q) promotes anchorage-independent breast cancer cell growth and resistance to gefitinib, U0126, and genotoxicity. 22252323

2012
dbSNP: rs397517132
rs397517132
EGFR
0.010 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480

2012
dbSNP: rs1140476
rs1140476
EGFR
0.010 GeneticVariation BEFREE We also report preliminary experimental data for SNP R977C suggesting that the variant C977 might confer greater risk for breast cancer. 20049516

2010
dbSNP: rs751295137
rs751295137
EGFR
0.010 GeneticVariation BEFREE Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or defective wt p53 signaling, we now investigated in human wt p53 breast carcinoma MCF-7 cells, whether single treatment with the p53 transactivation pharmacological inhibitor pifithrin-alpha, transient p53 siRNA interference or stable insertion of a dominant-negative (DN) R175H p53 mutant increase: (i) EGFR/erbB1 activation, (ii) MMP-9 expression and (iii) loss of surface E-cadherin. 19507255

2009
dbSNP: rs760101437
rs760101437
EGFR
0.010 GeneticVariation BEFREE Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or defective wt p53 signaling, we now investigated in human wt p53 breast carcinoma MCF-7 cells, whether single treatment with the p53 transactivation pharmacological inhibitor pifithrin-alpha, transient p53 siRNA interference or stable insertion of a dominant-negative (DN) R175H p53 mutant increase: (i) EGFR/erbB1 activation, (ii) MMP-9 expression and (iii) loss of surface E-cadherin. 19507255

2009