Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519724
rs1057519724
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010
dbSNP: rs1057519724
rs1057519724
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR The PI3K pathway as drug target in human cancer. 20085938

2010
dbSNP: rs1057519724
rs1057519724
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. 11504908

2001
dbSNP: rs1057519724
rs1057519724
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999
dbSNP: rs1057519727
rs1057519727
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013
dbSNP: rs1057519737
rs1057519737
ERBB2 ; MIR4728
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		GGGCTCCCCA 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. 16397024

2006
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519787
rs1057519787
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013
dbSNP: rs1057519816
rs1057519816
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519816
rs1057519816
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519825
rs1057519825
BTK
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib. 24869598

2014
dbSNP: rs1057519826
rs1057519826
BTK
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib. 24869598

2014
dbSNP: rs1057519827
rs1057519827
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer. 24398047

2014
dbSNP: rs1057519827
rs1057519827
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013
dbSNP: rs1057519827
rs1057519827
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519854
rs1057519854
FGFR2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519857
rs1057519857
ERBB2 ; MIR4728
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519890
rs1057519890
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519891
rs1057519891
ERBB3
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519891
rs1057519891
ERBB3
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519892
rs1057519892
ERBB3
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016