rs1136201, ERBB2

N. diseases: 34
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. 14569185 2003
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Moreover, the coding polymorphism I655V has previously been associated with an increased risk of breast cancer. 15743501 2005
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Human ERBB2 presents several SNPs.One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has been the focus of debate over its potential role as a susceptibility marker for breast cancer risk. 17452776 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Our study proposes the allelic imbalance of Ile655Val polymorphism between Greek Christian and Greek Muslim populations of Thrace contributes to the inconsistent association between this SNP and breast cancer risk across these two different ethnic groups. 17918664 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE In this study we aimed to determine whether the risk of breast cancer is associated with the I655V polymorphism of HER2 transmembrane domain-coding region at codon 655. 18721072 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE The present study was conducted to clarify the predictive and prognostic significance of serum TGF-I(2)1 in breast cancer in relation to Ile655Val single nucleotide polymorphism (SNP) of human epidermal growth factor receptor-2 (HER-2). 18348656 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE These study results suggest that Ile655Val polymorphism of the ERBB2 gene do not alter its activity and may not be associated with increased breast cancer risk among Chinese women. 17687647 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan. 18062925 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Polymorphisms of HER2 Ile655Val and cyclin D1 (CCND1) G870A are not associated with breast cancer risk but polymorphic allele of HER2 is associated with nodal metastases. 18237245 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Studies on the association between the Ile to Val polymorphism at codon 655 of the human epithelial growth factor receptor 2 (HER-2) gene and susceptibility to breast cancer have been reported for almost all ethnic populations, with both positive or negative conclusions. 18090908 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. 18058229 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE The P53 gene codon 72 Arg/Pro and Her2 gene Ile655Val polymorphisms were not associated with the risk of breast cancer in Turkish women. 20380571 2010