ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Moreover, a statistically significant increased risk of the rs3787016 TT genotype was observed among the patients with advanced tumor stage (Ⅲ and Ⅳ), poor histological grade (G3-G4), positive lymph node involvement, positive expression of ER and PR and negative expression of HER-2; rs7463708 GT and GT/GG genotype were associated with decreased risk of breast cancer in the subgroup of patients with postmenopausal status (GT versus (<i>vs.</i>) TT: adjusted OR = 0.67, 95% CI = 0.46-0.99, <i>P</i> = 0.043; GT/GG <i>vs</i>. 28607590 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Patients treated for metastatic BC prior to biopsy had lower CD8 (overall: p = 0.005, HER2+: p = 0.011, TN: p = 0.075). 29929548 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Deletion of GnT-V (MGAT5), which synthesizes N-glycans with β(1,6)-branched glycans, reduced the compartment of cancer stem cells (CSC) in the her-2 mouse model of breast cancer, leading to delay of tumor onset. 25274627 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Furthermore, elevated expression of Gab1 was positively associated with metastasis in HER2 and TNBC subtypes of BCa. 30665442 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE In contrast, we observed no association of ERBB2 single nucleotide polymorphism haplotypes with breast cancer predisposition. 19336545 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE CN hierarchical clustering revealed distinct patterns of gains, losses and complex alterations in HER2- and non-HER2-genes associated with IHC4 breast cancer subtypes. 25098819 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Gene status in HER2 equivocal breast carcinomas: impact of distinct recommendations and contribution of a polymerase chain reaction-based method. 25323485 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Chromosome 17q is highly susceptible to rearrangement mutations in breast cancer. c-erbB-2 at 17q11.2 approximately q21.1 is frequently amplified, as is a region at 17q22 approximately q24. 11408059 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Therefore, the identification of HER2-mutated breast cancer has clinical significance. 31351155 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE The authors studied sRAGE and RAGE polymorphisms in 120 patients with breast cancer (subdivided based on the clinical stage, histologic grading, expression of hormonal and Her2/neu receptors) and in 92 healthy controls. 18058469 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Significance of serum tumor necrosis factor-alpha and its combination with HER-2 codon 655 polymorphism in the diagnosis and prognosis of breast cancer. 20872355 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Women with HER2-postive, hormone receptor-positive breast cancer and one or more mutations in PIK3CA were less likely to benefit from neoadjuvant chemotherapy and HER2-targeted therapies than those without a mutation, according to study results presented on December 12 at the 2013 San Antonio Breast Cancer Symposium in Texas. 24501315 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Thirty-six publicly available breast cancer datasets (n = 5715) were subjected to molecular subtyping using five published classifiers (three SSPs and two SCMs) and SCMGENE, the new three-gene (ER, HER2, and AURKA) SCM. 22262870 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Genome-wide copy number aberrations and HER2 and FGFR1 alterations in primary breast cancer by molecular inversion probe microarray. 28125801 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Subtype analysis performed for patient subgroups defined by ER, PR, and HER2 status suggested additional associations of the <i>NOTCH3</i> SNP rs200504060 and the <i>HIF1A</i> SNP rs142179458 with breast cancer risk. 28775167 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Some of the important mutations include epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) mutations in small cell lung cancer, human epidermal growth factor receptor (HER2) mutation in breast cancer, and BRAF mutation in melanoma. 30771009 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Assessment of HER2 amplification status in breast cancer using a new automated HER2 IQFISH pharmDx™ (Dako Omnis) assay. 27461826 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE We assessed frequency distributions of the KRAS variant in 415 patients with histologically confirmed breast cancer and 457 controls from Connecticut, USA (study group 1) and association of this variant with breast-cancer subtypes in 690 Irish women with known oestrogen receptor (ER), progesterone receptor (PR), and HER2 statuses, and 360 controls (study group 2). 21435948 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE HER2 germline mutation A270S was identified in 5395 consecutive patients with operable primary breast cancer using direct Sanger sequencing analysis. 30175972 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE The HER2 codon 655 polymorphism may be one of many low-penetrant genes that make a minor contribution to breast cancer, particularly in subgroups of women. 12846420 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE HER2 polymorphisms were assessed in breast cancer tissue and normal breast tissue using TaqMan assay. 27788409 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Our analysis showed that both MIF and IL-17A were associated with increased risk of breast cancer (OR 3.85 CI 95% 1.98-7.50 and OR 4.51 95% 1.83-11.15, respectively), higher in aggressive subtypes Luminal B, HER2 and TN. 31102004 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Human epidermal growth factor receptor 2 (HER2 gene) and chromosome 17 polysomy are associated with breast cancer prognosis, chemotherapy and hormone therapy. 25119636 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR2) with HER-2 overexpression in breast cancer (P = 1.09 × 10(-3)) and rs11075995 (16q12.2/FTO) with basal-like breast cancer (P = 1.64 × 10(-4)) were statistically significant. 25007960 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE In particular, expression of the d16HER2 splice variant in human HER2-positive BC has a crucial pathobiological function, wherein the absence of sixteen amino acids from the extracellular domain induces the formation of stable and constitutively active HER2 homodimers on the tumor cell surface. 31261614 2019