Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding. 25366075

2014

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR PIK3CA and AKT1 mutations have distinct effects on sensitivity to targeted pathway inhibitors in an isogenic luminal breast cancer model system. 23888070

2013

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR PIK3CA mutation H1047R is associated with response to PI3K/AKT/mTOR signaling pathway inhibitors in early-phase clinical trials. 23066039

2013

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR We conducted a comprehensive genetic analysis of two independent cohorts of metastatic ER-positive breast tumors and identified mutations in ESR1 affecting the ligand-binding domain (LBD) in 14 of 80 cases. 24185512

2013

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR We conducted a comprehensive genetic analysis of two independent cohorts of metastatic ER-positive breast tumors and identified mutations in ESR1 affecting the ligand-binding domain (LBD) in 14 of 80 cases. 24185512

2013

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144

2012

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors. 22162589

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582

2012

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib. 22046346

2011

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR The selective class I PI3K inhibitor CH5132799 targets human cancers harboring oncogenic PIK3CA mutations. 21558396

2011

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR The PI3K pathway as drug target in human cancer. 20085938

2010

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837

2008

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008