ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Disease: Mammary Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519787
rs1057519787
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519890
rs1057519890
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1131692241
rs1131692241
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs121913468
rs121913468
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913468
rs121913468
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. 16397024 2006
dbSNP: rs121913468
rs121913468
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913468
rs121913468
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913468
rs121913468
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913468
rs121913468
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs121913468
rs121913468
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. 16397024 2006
dbSNP: rs121913468
rs121913468
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs121913469
rs121913469
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		CC 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib. 22046346 2011
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR EXEL-7647 inhibits mutant forms of ErbB2 associated with lapatinib resistance and neoplastic transformation. 18413839 2008
dbSNP: rs1058808
rs1058808
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		0.010 GeneticVariation BEFREE However, we found significant differences in the distribution of Ile655Val (p = 0.03) and Ala1170Pro (p = 0.01) genotypes between normal breast and breast tumor tissues. 27788409 2016
dbSNP: rs1136201
rs1136201
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		0.010 GeneticVariation BEFREE However, we found significant differences in the distribution of Ile655Val (p = 0.03) and Ala1170Pro (p = 0.01) genotypes between normal breast and breast tumor tissues. 27788409 2016
dbSNP: rs777081311
rs777081311
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms 		0.010 GeneticVariation BEFREE Subgroup analyses by menopausal status, hormone receptor status of breast tumors (estrogen receptor [ER], progesterone receptor [PR] and human epidermal growth factor receptor 2 [HER2]), alcohol intake and MTHFR polymorphisms (677C > T and 1298A > C) were also performed. 27905104 2017
dbSNP: rs1057519737
rs1057519737
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C1458155
Disease:
Mammary Neoplasms 		GGGCTCCCCA 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013