Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 Biomarker BEFREE Staining of p53 and PARP1 in breast cancer TMAs and comparison with the TCGA database indicated a higher double-positive signal in basal-like breast cancer than in Luminal A or Luminal B subtypes. 31776133

2020

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE We evaluated retrospectively a cohort of patients with germline TP53 pathogenic variants treated for localized breast cancer between December 1999 and October 2017. 31748977

2020

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE We found that 0.5% of patients (50 cases) carried a pathogenic TP53 germline mutation in this large series of 10,053 unselected breast cancer patients, and the prevalence of TP53 germline mutation was 3.8% in very early onset breast cancer (age ≤30 years) in this large cohort. 31119730

2020

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE The Dilemma of TP53 Codon 72 Polymorphism (rs1042522) and Breast Cancer Risk: A Case-Control Study and Meta-Analysis in The Iranian Population. 31721533

2020

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE The high incidence of deleterious variant detection in PALB2 supports its significant role in breast cancer susceptibility and reinforces its inclusion in the HBOC genetic diagnostic process. 31786208

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE We conducted a case-control study (4,059 cases and 4,059 matched controls) nested within the E3N French cohort study to estimate the risk of breast cancer associated with long-term exposure to airborne cadmium pollution, and its effect according to molecular subtype of breast cancer (estrogen receptor negative/positive [ER-/ER+] and progesterone receptor negative/positive [PR-/PR+]). 30851122

2020

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance. 31081934

2020

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE For both BRCA1 and BRCA2 mutation carriers, none of the smoking-related variables was associated with BC risk, except smoking for more than five years before a first full-term pregnancy (FFTP) when compared to parous women who never smoked. 31792088

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE In general, associations of risk factors for ER+ DCIS were similar in magnitude and direction to those for invasive ERbreast cancer. 31786415

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Most importantly, high HMGA1 predicted decreased overall survival (P < 0.0001) for all women with breast cancer and further stratified ER-positive tumors into those with inferior outcomes. 31531802

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Endocrine therapy resistance in breast cancer is a major obstacle in the treatment of patients with estrogen receptor-positive (ER+) tumors. 31595691

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 AlteredExpression BEFREE Correction to: Pharmacokinetic and pharmacodynamic analysis of fulvestrant in preclinical models of breast cancer to assess the importance of its estrogen receptor-α degrader activity in antitumor efficacy. 31734822

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE The aim of the present study was to investigate the anti-proliferative and cytotoxic effects of CCT137690 on estrogen receptor (ER)-positive human breast cancer cell line (MCF-7) and ER-negative human breast cancer cell line (MDA-MB-231). 31319040

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 AlteredExpression BEFREE The AP-2γ transcription factor, encoded by the <i>TFAP2C</i> gene, regulates the expression of estrogen receptor-alpha (ERα) and other genes associated with hormone response in luminal breast cancer. 31619506

2020

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE BRCA2 mutation carriers had a significantly higher frequency of CNS metastasis than noncarriers when controlling for breast cancer subtype. 31581314

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE We aimed to compare stemness profile of two major subtypes [Estrogen receptor positive (ER<sup>+</sup>) and negative (ER<sup>-</sup>)] breast cancer using different sets of markers. 30361903

2020

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE High expression of lncRNA MALAT1 along with low expression of breast cancer susceptibility gene 1 (BRCA1) were identified in septic mice and human skeletal muscle cells of sepsis. 31830649

2020

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Cysteine peptidase-like activity (CPA) in sera of patients with breast cancer at different stages of disease and the influence of genetic predisposition associated with BRCA-1 gene mutations were analysed. 31683457

2020

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Here, we found that PIK3CA played a role in the development of the early stage of breast cancer, which could provide clinical basis for treatment of breast cancer. 30443844

2020

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Compared with non-carriers, PALB2 pathogenic mutation carriers developed breast cancer at a younger age (47.52 years vs. 51.35 years, p = 0.016) and were more likely to have triple-negative (24.1% vs. 13.4%, p = 0.022) or HER2 negative (87.0% vs. 74.2%, p = 0.031) breast cancer and large breast tumors (> 2 cm) at diagnosis (72.2% vs. 57.0%, p = 0.024). 31768816

2020

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE The purpose of this study was to retrospectively investigate the response to trastuzumab in breast cancer patients in terms of the potential roles of several oncogenic pathways (phosphatase and tensin homolog (PTEN) and phosphatidylinositol 3-kinase (PI3K)) in relation to HER2 status. 31786856

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE In the present study, we investigated the effects of lupiwighteone on the proliferation and apoptosis of two different human cancer cells; MCF-7, an estrogen receptor (ER)-positive human breast cancer cell, and MDA-MB-231, a triple negative human breast cancer cell. 31604113

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Breast cancer (BC) is the most common cancer in women, where hormone receptor-positive (HR+; estrogen receptor and/or progesterone receptor) BC comprises the majority (>50%) and has better prognosis, while a minority (<20%) are triple negative BC (TNBC), which has an aggressive phenotype. 31502168

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE A great hallmark of breast cancer is the absence or presence of estrogen receptors ERα and ERβ, with a dominant role in cell proliferation, differentiation and cancer progression. 31401293

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE <b>Conclusion:</b><i>CYP2D6*10</i> pharmacogenetic-guided selective estrogen receptor modulator can be a cost-effective strategy in the Chinese patients with hormone receptor-positive breast cancer. 31769341

2020