Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.100 GeneticVariation disease BEFREE ESR1 circulating D538G and Y537S/N/C mutations were retrospectively analyzed by digital droplet PCR after first-line AI failure in patients treated consecutively from 2010 to 2012 for hormone receptor-positive metastatic breast cancer. 27801670 2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.100 GeneticVariation disease BEFREE Clinical Outcomes, Treatment Patterns, and Health Resource Utilization Among Metastatic Breast Cancer Patients with Germline BRCA1/2 Mutation: A Real-World Retrospective Study. 30656571 2019
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
0.100 GeneticVariation disease BEFREE A randomized phase II study of aromatase inhibitors plus metformin in pre-treated postmenopausal patients with hormone receptor positive metastatic breast cancer. 29137418 2017
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.100 GeneticVariation disease BEFREE The purpose of this study was to determine the clinical activity of the PI3K inhibitor buparlisib (BKM120) in patients with HER2(+) advanced/metastatic breast cancer resistant to trastuzumab-based therapy. 24470511 2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.100 GeneticVariation disease BEFREE Array CGH and PIK3CA/AKT1 mutations to drive patients to specific targeted agents: a clinical experience in 108 patients with metastatic breast cancer. 22840369 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.100 GeneticVariation disease BEFREE Eligible patients ≥18 years with locally recurrent or metastatic breast cancer and a deleterious BRCA1/2 germline mutation were randomized 1 : 1 : 1 to VCP, VT, or placebo plus carboplatin/paclitaxel (PCP). 29045554 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.100 GeneticVariation disease BEFREE Genomic modelling of the ESR1 Y537S mutation for evaluating function and new therapeutic approaches for metastatic breast cancer. 27748765 2017
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
0.100 GeneticVariation disease BEFREE In evaluable HER2<sup>+</sup> MBC (<i>n</i> = 22) treated at doses ≥ MTD, the response rate was 14% [all partial response (PR)] and the clinical benefit rate (PR + stable disease ≥ 24 weeks) was 27%.<b>Conclusions:</b> ONT-380 had a lower incidence and severity of diarrhea and rash than that typically associated with current dual HER2/EGFR inhibitors and showed notable antitumor activity in heavily pretreated HER2<sup>+</sup> MBC patients, supporting its continued development.<i></i>. 28053022 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.100 GeneticVariation disease BEFREE Except for the overall unfavorable prognostic effect of PIK3CA mutations in trastuzumab-treated MBC, our exploratory findings indicate that the outcome of patients with R-MBC is related to patient benefit from the preceding adjuvant chemotherapy and provide initial evidence that tumor mutational burden may be related to prognosis in dn-MBC, which is of potential clinical relevance and merits further investigation. 30545790 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.100 GeneticVariation disease 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: 5243
Gene Symbol: ABCB1
ABCB1
0.100 GeneticVariation disease BEFREE Because transduction of hematopoietic stem cells with the multidrug resistance 1 (MDR1) gene might circumvent this problem, we conducted a pilot study of MDR1 gene therapy against metastatic breast cancer. 17683514 2007
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.100 GeneticVariation disease BEFREE ABCB1 genotypes may be a predictor of paclitaxel activity as well as a prognostic factor in metastatic breast cancer patients. 18836089 2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.100 GeneticVariation disease BEFREE PIK3CA mutations occur at high frequency in primary and metastatic breast cancer; these may not necessarily confer increased aggressiveness as mutants had a longer time to recurrence. 20940279 2011
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.100 GeneticVariation disease 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
0.100 GeneticVariation disease BEFREE Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer. 26560360 2015
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
0.100 GeneticVariation disease BEFREE Patient-reported outcomes in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer receiving olaparib versus chemotherapy in the OlympiAD trial. 31446213 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
0.100 GeneticVariation disease BEFREE FISH performed on FNAB samples is suitable to categorize primary and metastatic breast cancer in regard of HER2 gene amplification status and can be used as a predictive test in respect of therapies targeting HER2.Diagn.Cytopathol.2016;44:466-471. 26990933 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.100 GeneticVariation disease BEFREE The purpose of the study was to investigate the heterogeneity of PIK3CA mutational status within single CTCs isolated from individual mBC patients. 25539732 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.100 GeneticVariation disease BEFREE Evaluation of the association of PIK3CA mutations and PTEN loss with efficacy of trastuzumab therapy in metastatic breast cancer. 21594665 2011
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
0.100 GeneticVariation disease BEFREE We retrospectively screened patients with metastatic breast cancer in whom molecular profiling had been performed using next-generation sequencing from 2012 to 2015; we identified 18 patients with HER2 mutation. 31351155 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 GeneticVariation disease BEFREE Prophylactic use of steroid mouth rinse provides a cost-effective option that substantially decreases the incidence and severity of mammalian target of rapamycin (mTOR) inhibitor-associated stomatitis and related oral AEs as well as the need for dose modification in MBC patients undergoing treatment with an mTOR inhibitor. 30833486 2019
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
0.100 GeneticVariation disease BEFREE S Food and Drug Administration (FDA) granted regular approval for the treatment of hormone receptor (HR) positive, metastatic breast cancer in combination with an aromatase inhibitor in postmenopausal women. 29772457 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.100 GeneticVariation disease BEFREE A multiplex allele-specific real-time PCR assay for screening of ESR1 mutations in metastatic breast cancer. 25746663 2015
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.100 GeneticVariation disease BEFREE The purpose of this study was to determine the clinical activity of the PI3K inhibitor buparlisib (BKM120) in patients with HER2(+) advanced/metastatic breast cancer resistant to trastuzumab-based therapy. 24470511 2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.100 GeneticVariation disease BEFREE PIK3CA gene mutation is one of the most frequent events in mBC and is associated with HT resistance. 31297647 2019