ESR1 Mutation

CI-VAR-00002717Explore in graph →CIViC 3910

Curated evidence

Evidence by cancer (5 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–5 of 5 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Breast Carcinoma2
ESR1 Mutation	Abemaciclib Regimen + Imlunestrant RegimenCombination	Predictive	A	Supports Sensitivity Response	4	submitted	EID12599 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	civic
ESR1 Mutation	Aromatase Inhibitor + Fulvestrant + Imlunestrant RegimenSubstitutes	Predictive	A	Supports Sensitivity Response	4	submitted	EID12600 In a randomized, open-label phase 3 trial in ER-positive, HER2-negative breast carcinoma (EMBER-3, NCT04975308; n = 874; ESR1-mut subgroup n = 256), imlunestrant monotherapy (n=331) improved investiga…

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Malignant Breast Neoplasm3
ESR1 D538G OR ESR1 Y537C OR ESR1 Y537N OR ESR1 Y537S OR ESR1 E380Q OR ESR1 Mutation	Lasofoxifene	Predictive	A	Supports Sensitivity Response	4	submitted	EID12934 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	civic
ESR1 Mutation	Elacestrant	Predictive	A	Supports Sensitivity Response	4	accepted	EID11443 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	civic
PIK3CA Mutation OR RB1 Mutation OR ESR1 Mutation	Fulvestrant + PalbociclibCombination	Predictive	B	Supports Resistance	3	accepted	EID12045 In this phase III trial (PALOMA-3), patients with ER+, HER2- advanced breast cancer were treated with CDK4/6 inhibitors. Patients were randomized to receive palbociclib plus fulvestrant (P+F) or place… (full text at CIViC) PMID 30206110 · O'Leary et al., 2018 · Open in CIViC	civic