Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. 10788334

2000

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Notably, we also found ESR1 amplification in benign and precancerous breast diseases, suggesting that ESR1 amplification may be a common mechanism in proliferative breast disease and a very early genetic alteration in a large subset of breast cancers. 17417639

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Structural and thermodynamic consequences of the replacement of zinc with environmental metals on estrogen receptor α-DNA interactions. 22038807

2012

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Combined deletion of Pten and p53 in mammary epithelium accelerates triple-negative breast cancer with dependency on eEF2K. 25330770

2014

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human TP53 mutations might induce resistance to certain modalities of breast cancer therapy. 15802278

2005

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Evaluation of the prognostic and predictive value of p53 and Bcl-2 in breast cancer patients participating in a randomized study with dose-dense sequential adjuvant chemotherapy. 16968874

2006

Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Genomic high-resolution profiling of single CKpos/CD45neg flow-sorting purified circulating tumor cells from patients with metastatic breast cancer. 25267515

2014

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human These findings could have important implications for the treatment of PIK3CA-mutant BCs and the development of PI3K/mTOR inhibitors. 20479250

2010

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human MCF-7 cells expressing nuclear associated lysyl oxidase-like 2 (LOXL2) exhibit an epithelial-to-mesenchymal transition (EMT) phenotype and are highly invasive in vitro. 24014025

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Thus, we concluded that highly expressed HBXIP accelerates the MDM2-mediated degradation of p53 in breast cancer through modulating the feedback loop of MDM2/p53, resulting in the fast growth of breast cancer cells. 26229107

2015

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer. 22614657

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Promotion of mammary cancer development by tamoxifen in a mouse model of Brca1-mutation-related breast cancer. 15750629

2005

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer. 22614657

2012

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human ESR1 amplification as detected by MLPA is rare in breast cancer, and seems to be associated with high ERα expression, high age, high grade and high proliferation. 21541733

2011

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human In univariate analysis, PI3K pathway aberrations were associated with death from breast cancer; however, this relationship was not maintained in multivariate analysis. 19685490

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Here we show that heterozygous inactivation of the tumor suppressor gene Pten leads to the formation of basal-like mammary tumors in mice, and that loss of PTEN expression is significantly associated with the BBC subtype in human sporadic and BRCA1-associated hereditary breast cancers. 18066063

2008

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. 28825726

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human These results validate the concept of using pigs as a model to study BRCA1 defects in breast cancer and establish the first porcine breast tumor cell line. 26379698

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human p53 mutants cooperate with HIF-1 in transcriptional regulation of extracellular matrix components to promote tumor progression. 30381462

2018

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Breast cancers with a TP53 mutation were repeatedly shown to have a poor outcome, but whether this reflects poor response to treatment or greater intrinsic aggressiveness of the tumor is unknown. 17388661

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human ESR1 amplification as detected by MLPA is rare in breast cancer, and seems to be associated with high ERα expression, high age, high grade and high proliferation. 20966540

2010

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human Correlation of microarray-based breast cancer molecular subtypes and clinical outcomes: implications for treatment optimization. 21501481

2011

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human The Possible Impact of Obesity on Androgen, Progesterone and Estrogen Receptors (ERα and ERβ) Gene Expression in Breast Cancer Patients. 22174584

2011

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker CTD_human The novel estrogen receptor-alpha (ER-alpha) variant ER-alpha36 is reported to be functional in the estrogen signaling pathway and is related to tamoxifen resistance in breast cancer. 20104649

2010