Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 GeneticVariation CLINVAR Mutations in residues of TP53 that directly contact DNA predict poor outcome in human primary breast cancer. 9569050

1998
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 GeneticVariation CLINVAR The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer. 16489069

2006
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer. 24398047

2014
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. 17721994

2007
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: 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: 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 Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective. 26344711

2015
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Response of an ERBB2-mutated inflammatory breast carcinoma to human epidermal growth factor receptor 2-targeted therapy. 24516025

2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
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: 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: 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: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR EXEL-7647 inhibits mutant forms of ErbB2 associated with lapatinib resistance and neoplastic transformation. 18413839

2008
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR We identified PIK3CA mutations in 26% of 342 human breast tumor samples and cell lines at about equal frequency in tumor stages I to IV. 15805248

2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
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