Malignant Breast Neoplasm

Protein-based assays showed that ESR1::CCDC170 fusion expressing cells had increased protein expression of HER2 and SRC, as well as increased HER2 phosphorylation. The ESR1::CCDC170 fusion, E2-E7 and … (full text at CIViC)

PMID 32771039 · Li et al., 2020 · Open in CIViC

Protein-based assays showed that ESR1::CCDC170 fusion expressing cells had increased protein expression of HER2 and SRC, as well as increased HER2 phosphorylation. The ESR1::CCDC170 fusion, E2-E7 and … (full text at CIViC)

PMID 32771039 · Li et al., 2020 · Open in CIViC

Protein-based assays showed that ESR1::CCDC170 fusion expressing cells had increased protein expression of HER2 and SRC, as well as increased HER2 phosphorylation. The ESR1::CCDC170 fusion, E2-E7 and … (full text at CIViC)

PMID 32771039 · Li et al., 2020 · Open in CIViC

The ESR1::CCDC170 fusion, E2-E7 and E2-E10 variants, were expressed in T47D luminal breast cancer cells and these cells were implanted in athymic nude mice to produce xenografts. Tamoxifen treatment r… (full text at CIViC)

PMID 32771039 · Li et al., 2020 · Open in CIViC

Protein-based assays showed that ESR1::CCDC170 fusion expressing cells had increased protein expression of HER2 and SRC, as well as increased HER2 phosphorylation. The ESR1::CCDC170 fusion, E2-E7 and … (full text at CIViC)

PMID 32771039 · Li et al., 2020 · Open in CIViC

MCF7 cell lines harboring the D538G mutation in the ligand-binding domain of ESR1 have shown resistance to hormone therapy.

PMID 24185512 · Toy et al., 2013 · Open in CIViC

In a phase 3 clinical trial (NCT01942135) of 360 premenopausal and postmenopausal women with advanced, hormone receptor-positive breast cancer who had progressed during prior endocrine therapy, patien… (full text at CIViC)

PMID 27269946 · Fribbens et al., 2016 · Open in CIViC

In the randomized, open-label Phase II ELAINE-1 trial (n = 103), patients with ESR1‑mutated ER⁺/HER2⁻ mBC progressing after aromatase inhibitor plus CDK4/6 inhibitor therapy received either lasofoxife… (full text at CIViC)

PMID 38072514 · Goetz et al., 2023 · Open in CIViC

In a phase 3 clinical trial (NCT01942135) of 360 premenopausal and postmenopausal women with advanced, hormone receptor-positive breast cancer who had progressed during prior endocrine therapy, patien… (full text at CIViC)

PMID 27269946 · Fribbens et al., 2016 · Open in CIViC

In CRISPR/Cas9-engineered MCF-7 breast cancer cells, ESR1 L370F reduced sensitivity to fulvestrant by decreasing fulvestrant-induced ERα degradation, suppressing inhibition of ERα transcriptional acti… (full text at CIViC)

PMID 41491538 · Cipolletti et al., 2026 · Open in CIViC

MCF7 cell lines harboring the L536Q mutation in the ligand-binding domain of ESR1 have shown resistance to hormone therapy.

PMID 24185512 · Toy et al., 2013 · Open in CIViC

Using an estrogen response element (ERE)-luciferase reporter system co-transfected with one of five ESR1 mutants, the L536Q ligand binding domain mutation was shown to result in constitutive activity … (full text at CIViC)

PMID 24185510 · Robinson et al., 2013 · Open in CIViC

In a phase 3 clinical trial (NCT01942135) of 360 premenopausal and postmenopausal women with advanced, hormone receptor-positive breast cancer who had progressed during prior endocrine therapy, patien… (full text at CIViC)

PMID 27269946 · Fribbens et al., 2016 · Open in CIViC

In a phase 3 trial (NCT03778931), the selective ER-degrader elacestrant was shown to increase progression free survival (PFS) in both ESR1 mutant and ESR1 wild type, ER-positive, HER2-negative breast … (full text at CIViC)

PMID 35584336 · Bidard et al., 2022 · Open in CIViC

In the concurrently randomized cohort of the same phase 3 trial in ER-positive, HER2-negative breast carcinoma (NCT04975308; n = 426, 213 per arm), imlunestrant plus abemaciclib improved investigator-… (full text at CIViC)

PMID 39660834 · Jhaveri et al., 2025 · Open in CIViC

A phase 2 clinical trial evaluated 165 patients with oestrogen receptor positive and HER2-negative breast cancer such that 84 patients received combination therapy of palbociclib plus letrozole and 81… (full text at CIViC)

PMID 25524798 · Finn et al., 2015 · Open in CIViC

In a phase 3 clinical trial (NCT01942135) of 360 premenopausal and postmenopausal women with advanced, hormone receptor-positive breast cancer who had progressed during prior endocrine therapy, patien… (full text at CIViC)

PMID 27269946 · Fribbens et al., 2016 · Open in CIViC

MCF7 cell lines harboring the Y537C mutation in the ligand-binding domain of ESR1 have shown resistance to hormone therapy.

PMID 24185512 · Toy et al., 2013 · Open in CIViC

In a phase 3 clinical trial (NCT01942135) of 360 premenopausal and postmenopausal women with advanced, hormone receptor-positive breast cancer who had progressed during prior endocrine therapy, patien… (full text at CIViC)

PMID 27269946 · Fribbens et al., 2016 · Open in CIViC

MCF7 cell lines harboring the Y537N mutation in the ligand-binding domain of ESR1 have shown resistance to hormone therapy.

PMID 24185512 · Toy et al., 2013 · Open in CIViC

In a study of 16 metastatic breast cancer patients (NCT02142868) treated with palbociclib in combination with letrozole, patients with ESR1 mutations (5/16) detected at initial blood draw, including E… (full text at CIViC)

PMID 28978004 · Gyanchandani et al., 2017 · Open in CIViC

MCF7 cell lines harboring the L537S mutation in the ligand-binding domain of ESR1 have shown resistance to hormone therapy.

PMID 24185512 · Toy et al., 2013 · Open in CIViC

In a study of 16 metastatic breast cancer patients (NCT02142868) treated with palbociclib in combination with letrozole, patients with ESR1 mutations (5/16) detected at initial blood draw, including E… (full text at CIViC)

PMID 28978004 · Gyanchandani et al., 2017 · Open in CIViC

In ERα-positive breast cancer xenograft and PDX models expressing ERαWT or ERαY537S (ST986, ST1799, ST941, ST2177, ST2056), oral H3B-6545 produced dose-dependent antitumor activity, including TGI of 6… (full text at CIViC)

PMID 35642432 · Furman et al., 2022 · Open in CIViC

In a clinical study including 4 cohorts of 649, 398, 887 and 1375 patients respectively, beta-1 underexpression is not significantly correlated with decreased DFS (including in ERalpha positive patien… (full text at CIViC)

PMID 25007965 · Wimberly et al., 2014 · Open in CIViC

In a clinical trial including 105 patients, beta-2 expression is significantly associated with an increased RFS (p = 0.006) and OS (p= 0.0008) by a multivariate analysis. This significative correlatio… (full text at CIViC)

PMID 15591034 · Davies et al., 2004 · Open in CIViC

In a clinical study including 903 patients, ERalpha negative patients with no expression of beta-1 is significantly correlated with decreased DFS (p < 0.0001).

PMID 27810901 · Elebro et al., 2017 · Open in CIViC

In a clinical study including 177 patients ERalpha positive treated with tamoxifen and fluoxymesterone therapy, nuclear underexpression of beta-1 is significantly associated with decreased RFS (p = 0.… (full text at CIViC)

PMID 25288324 · Reese et al., 2014 · Open in CIViC

A 6-year-old female had invasive breast adenocarcinoma with the histopathologic features of a secretory breast carcinoma (SBC). FISH and RT-PCR on frozen tumor tissue found ETV6::NTRK3 fusion. 11 of … (full text at CIViC)

PMID 12450792 · Tognon et al., 2002 · Open in CIViC

In developing a FISH assay to detect ETV6::NTRK3 fusions, the authors found 3 of 4 secretary breast carcinomas were positive for the fusion. In a subsequent analysis of an invasive breast carcinoma t… (full text at CIViC)

PMID 15101049 · Makretsov et al., 2004 · Open in CIViC

Drug resistance to CDK4/6 inhibitors was analyzed in a genomic study of 348 estrogen receptor-positive (ER+) breast cancer cases. Among patients treated with CDK4/6 inhibitors, those with FAT1 mutatio… (full text at CIViC)

PMID 30537512 · Li et al., 2018 · Open in CIViC

A total of 57 women with HER2-positive metastatic breast cancer were analyzed after taxane plus trastuzumab chemotherapy. FCGR2A H131R carriers did not have a significantly different response rate, pr… (full text at CIViC)

PMID 22906996 · Kim et al., 2012 · Open in CIViC

1325 HER2-positive breast cancer patients treated with trastuzumab and chemotherapy from the N9831 clinical trial were analyzed. There was no statistical difference in disease-free survival between tr… (full text at CIViC)

PMID 24989892 · Norton et al., 2014 · Open in CIViC

1325 HER2-positive breast cancer patients treated with trastuzumab and chemotherapy from the N9831 clinical trial were analyzed. There was a difference in disease-free survival for FCGR2B I232T, with … (full text at CIViC)

PMID 24989892 · Norton et al., 2014 · Open in CIViC

A total of 57 women with HER2-positive metastatic breast cancer were analyzed after taxane plus trastuzumab chemotherapy. FCGR3A V158F carriers did not have a significantly different response rate, pr… (full text at CIViC)

PMID 22906996 · Kim et al., 2012 · Open in CIViC