Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Approximately 5-10% of breast carcinomas have been related to hereditary conditions and are attributable to pathogenic variants in the BRCA1 and BRCA2 genes, which is referred to as hereditary breast and ovarian cancer (HBOC) syndrome. 31786208

2020

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE PTEN loss mediates clinical cross-resistance to CDK4/6 and PI3Kα inhibitors in breast cancer. 31594766

2020

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
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: 207
Gene Symbol: AKT1
AKT1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 AlteredExpression BEFREE Our in vivo experiments also show that GL-V9 significantly inhibits the growth of human breast cancer due to activation of GSK-3β and inactivation of AKT. 31669347

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Women with ER-negative disease or breast cancer diagnosis within the first follow-up year were excluded. 31187481

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Ax-pCR was more likely to be achieved in patients who were diagnosed with ER-negative and high-grade breast cancer and those with ycN0 and clinical CR at the primary site after NAC than among others. 31367884

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE This focused review highlights recent achievements in pre-clinical and clinical imaging of ER and PR in breast cancer. 31732674

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 AlteredExpression BEFREE 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. 31562570

2020

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Poly (ADP-ribose) polymerase (PARP) inhibitors exploit this deficiency through synthetic lethality and have emerged as promising anticancer therapies, especially in breast cancer gene (BRCA1 or BRCA2) mutation carriers. 31650446

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE rs2234693 and rs9340799 polymorphisms in the ESR1 gene were not associated with susceptibility for BC. 31786857

2020

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Patients harboring germline Breast Cancer susceptibility genes 1 and 2 (BRCA1/2) mutations are predisposed to developing breast, pancreatic, and ovarian cancers. 31575654

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Cost-effectiveness Analysis of CYP2D6*10 Pharmacogenetic Testing to Guide the Adjuvant Endocrine Therapy for Postmenopausal Women with Estrogen Receptor Positive Early Breast Cancer in China. 31559573

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE In this paper, we present a prospective observational study, which determines the incidence of bone metastases and its correlation with hormonal receptors (estrogen receptor [ER]/progesterone receptor [PR]) and human epidermal growth factor receptor 2 (HER2) in breast cancer. 31603096

2020

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE We have successfully identified a novel, germline heterozygous, missense mutation of the gene BRCA2: c.7007G>T, p.R2336L, which is likely to be pathogenic in the proband and her elder sister who both had breast cancer. 31782247

2020

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Our study revealed a potential novel gene and multiple disruptive variants of BRCA2 for breast cancer risk, which may identify high-risk women in Chinese populations.This article is protected by copyright.All rights reserved. 31837001

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Combination with BRAF/MEK pathway activities could improve ER status-based recurrence prediction for breast cancer. 31547956

2020

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Eight PVs in ATM, BRCA2 (x2), PALB2, RAD51D, BRIP1, and MUTYH (x2) were identified in 7 of 44 individuals with breast cancer (15.9%, 95% CI: 7-30%), whereas none were identified in healthy controls (p = .01). 31575519

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Alcohol intake was positively associated with overall BC risk and specifically with estrogen receptor-positive tumors with respectively TE = 1.17(95%CI: 1.01,1.35) and 1.36(1.08,1.70) for a 1-standard deviation (1-SD) increase of intake. 30968961

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Patients with estrogen receptor-expressing early-stage operable breast cancer who received depomedroxyprogesterone acetate for hot flashes between January 2005 and December 2012 were identified. 31402403

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Mutations in the ligand-binding domain (LBD) of the ESR1 gene result in resistance to estrogen deprivation therapy (EDT) in breast cancer. 31669227

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) are the three crucial biomarkers for the clinical diagnosis of breast cancer. 31665670

2020

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE STEAP2 is down-regulated in breast cancer tissue and suppresses PI3K/AKT signaling and breast cancer cell invasion in vitro and in vivo. 31696760

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Using an unbiased cell line screening approach, we tested the sensitivity of breast cancer cell lines to taselisib, a potent PI3K inhibitor, and correlated sensitivity with key biomarkers (PIK3CA, HER2, PTEN, ESR1). 31534012

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE This study underlines the importance of the EGFR ligand, Amphiregulin, as a key mediator of estrogen receptor action in breast cancer. 31838731

2020

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Data on tumor characteristics, disease stage, and therapeutic decisions were collected on BRCA1/2 mutation carriers treated for breast cancer at the Chaim Sheba Medical Center. 31760168

2020