Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE The poly-(ADP-ribose) polymerase (PARP) inhibitors olaparib and talazoparib, have recently been approved for use in patients with metastatic breast cancer (BC) and germline BRCA 1 or 2 mutations due to improved progression-free survival compared to chemotherapy. 31823331

2020

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE The impact of new systemic therapies on survival and time on hormonal treatment in hormone receptor-positive, human epidermal growth factor receptor 2-negative metastatic breast cancer: A population-based study in British Columbia from 2003 to 2013. 31750938

2020

Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE Efficacy and Safety of Palbociclib and Fulvestrant in Japanese Patients With ER+/HER2- Advanced/Metastatic Breast Cancer. 31662535

2020

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE On April 4, 2019, the FDA approved a supplemental new drug application for palbociclib (IBRANCE), to expand the approved indications in women with hormone receptor (HR)-positive, HER2-negative advanced or metastatic breast cancer (MBC) in combination with an aromatase inhibitor or fulvestrant, to include men. 31649043

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE In this retrospective, single-center cohort study we evaluated real-world use of first-line palbociclib with aromatase inhibitor (AI) treatment in HR-positive, HER2-negative metastatic breast cancer patients who received treatment between February 2015 and July 2017. 31451366

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE We explored activity of the irreversible pan-HER kinase inhibitor neratinib, alone or with fulvestrant, in 81 patients with HER2-mutant metastatic breast cancer. 31806627

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE The HER2-intermediate patients more frequently tended to have progesterone receptor (PR)-negativity and higher nuclear grade in the EBC cohort, and showed a higher proportion of patients aged ≥ 55 years compared with the HER2-negative group in the MBC cohort. 31811505

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE Fulvestrant is a potent selective estrogen receptor degrader (SERD), which degrades the ERα receptor in drug-resistant tumors and has been approved for the treatment of hormone-receptor-positive metastatic breast cancer following antiestrogen therapy. 31721572

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE Pubmed, Embase, the Cochrane Library, and ClinicalTrials.gov were searched for randomized controlled trials that evaluated any taxanes+HER2-targeted agents in the treatment of HER2<sup>+</sup> MBC. 31529262

2020

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE Recently, the PARP inhibitors olaparib and rucaparib were FDA approved for the treatment of metastatic breast cancer and recurrent ovarian cancer patients with mutations in BRCA1/2. 31575654

2020

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE CNS involvement is frequent in women with germline BRCA1/BRCA2 mutations who have metastatic breast cancer. 31581314

2020

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045

2020

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 AlteredExpression BEFREE We aimed to evaluate the prognostic impact of intermediate HER2 expression in estrogen receptor (ER)+ early breast cancer (EBC) and metastatic breast cancer (MBC) cohorts. 31811505

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE Among 16 702 patients recorded in the ESME MBC database, 10 595 had an initially localised breast cancer with hormone receptor (HR) and HER2 status available, with a metastatic recurrence.Median follow up was 56 months. 31675683

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE Baseline plasma cell-free DNA (cfDNA) from 164 postmenopausal women with ER-positive, HER2-negative MBC refractory to a non-steroidal aromatase inhibitor and treated with standard EVE/EXE (Everolimus Biomarker Study, Eudract 2013-004120-11) was characterised for 10 relevant breast cancer genes by next generation sequencing with molecular barcoding. ctDNA molecule numbers, number of mutations and specific variants were related with PFS and overall survival (OS). 31841262

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE This article summarizes FDA decision-making and data supporting the approval of palbociclib for the treatment of male patients with HR-positive, HER2-negative advanced or MBC. 31649043

2020

Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE Biomarker Analyses of Response to Cyclin Dependent Kinase 4/6 Inhibition and Endocrine Therapy in Women With Treatment-Naïve Metastatic Breast Cancer. 31527167

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE We review the latest recommendations and supporting evidence for endocrine therapy in women with hormone receptor-positive/HER2-negative metastatic breast cancer and discuss strategies for the optimal sequential therapy in scenarios of response to endocrine therapy. 31849236

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE Fulvestrant and palbociclib combination in heavily pretreated hormone receptor-positive, HER2-negative metastatic breast cancer patients. 31612291

2020

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045

2020

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045

2020