Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519816
rs1057519816
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.710 GeneticVariation BEFREE In this study, we reported the first clinical evidence of efficacy generated by afatinib, the irreversible HER family inhibitor, targeting HER2 S310Y single site mutation in lung adenocarcinoma. 29561699

2018

dbSNP: rs1057519816
rs1057519816
CUI: C0027651
Disease: Neoplasms
Neoplasms
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

dbSNP: rs1058808
rs1058808
CUI: C0004096
Disease: Asthma
Asthma
0.710 GeneticVariation BEFREE ICSNPathway analysis identified four candidate causal SNPs, four genes, and 21 candidate causal pathways, which in total provided four hypothetical biologic mechanisms: (1) rs7192 (nonsynonymous coding) to HLA-DRA to 21 pathways, such as, the role of eosinophils in the chemokine network of allergy, Th1/Th2 differentiation, and asthma (nominal p ≤ 0.001, FDR p ≤ 0.01); (2) rs20541 (nonsynonymous coding) to IL13 to asthma and cytokines and inflammatory response (nominal p<0.001, FDR p ≤ 0.008); (3) rs1058808 (frameshift coding) to ERBB2 to transmembrane receptor activity (nominal p=0.001, FDR p=0.01); (4) rs17350764 (nonsynonymous coding (deleterious)) to OR52J3 to transmembrane receptor activity (nominal p=0.001, FDR p=0.01). 23200760

2013

dbSNP: rs121913469
rs121913469
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.710 GeneticVariation BEFREE Atomistic insights into the lung cancer-associated L755P mutation in HER2 resistance to lapatinib: a molecular dynamics study. 25620423

2015

dbSNP: rs28933369
rs28933369
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 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

dbSNP: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE HER2 Ile655Val polymorphism is negatively associated with breast cancer susceptibility. 29417620

2018

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE HER2 Ile655Val polymorphism is negatively associated with breast cancer susceptibility. 29417620

2018

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We studied the HER2 codon 655 (rs1136201) polymorphism in 80 Austrian patients with BC and 100 healthy volunteers by pyrosequencing and polymerase chain reaction. 26637882

2015

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We studied the HER2 codon 655 (rs1136201) polymorphism in 80 Austrian patients with BC and 100 healthy volunteers by pyrosequencing and polymerase chain reaction. 26504013

2015

dbSNP: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE We studied the HER2 codon 655 (rs1136201) polymorphism in 80 Austrian patients with BC and 100 healthy volunteers by pyrosequencing and polymerase chain reaction. 26504013

2015

dbSNP: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE We studied the HER2 codon 655 (rs1136201) polymorphism in 80 Austrian patients with BC and 100 healthy volunteers by pyrosequencing and polymerase chain reaction. 26637882

2015

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In summary, our meta-analysis findings suggest that the HER2 Ile655Val polymorphism is marginally associated with breast cancer susceptibility in worldwide populations with additive and dominant models, but not a recessive model. 25520082

2014

dbSNP: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE In summary, our meta-analysis findings suggest that the HER2 Ile655Val polymorphism is marginally associated with breast cancer susceptibility in worldwide populations with additive and dominant models, but not a recessive model. 25520082

2014

dbSNP: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE HER2 Ile655Val polymorphism was determined in 4167 patients with primary breast cancer using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. 24608202

2014

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE HER2 Ile655Val polymorphism affects the function of HER2 gene only restricted in HER2-positive breast cancers. 24608202

2014

dbSNP: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 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: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE This meta-analysis aimed to assess the association between ERBB2 Ile655Val and Ala1170Pro polymorphisms and the susceptibility to breast cancer. 23900832

2013

dbSNP: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 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

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 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

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE This meta-analysis aimed to assess the association between ERBB2 Ile655Val and Ala1170Pro polymorphisms and the susceptibility to breast cancer. 23900832

2013

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 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: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE It is unlikely that HER2 rs1136201 is a risk factor for breast cancer. 21474413

2011

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE One single-nucleotide polymorphism at codon 655 indicates a guanine-to-adenine substitution (Ile655Val) in the transmembrane domain-coding region of the HER-2/neu gene reported to be associated with increased risk of breast cancer. 21204706

2011

dbSNP: rs1136201
rs1136201
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE One single-nucleotide polymorphism at codon 655 indicates a guanine-to-adenine substitution (Ile655Val) in the transmembrane domain-coding region of the HER-2/neu gene reported to be associated with increased risk of breast cancer. 21204706

2011

dbSNP: rs1136201
rs1136201
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The present study was conducted to clarify the diagnostic and prognostic significance of TNF-alpha and its combination with HER-2 Ile655Val SNP in breast cancer. 20872355

2011