ESR1 D538G

CI-VAR-00000501Explore in graph →NP_000116.2:p.Asp538GlyNM_000125.3:c.1613A>GCIViC 47

Curated evidence

Evidence by cancer (7 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 1–7 of 7 evidence items across 3 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
Malignant Breast Neoplasm5
ESR1 D538G	Hormone Therapy	Predictive	D	Supports Resistance	3	accepted	EID243 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	civic
ESR1 D538G	Palbociclib	Predictive	C	Supports Sensitivity Response	—	submitted	EID4813 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	civic
ESR1 D538G

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.

Estrogen Receptor-positive Breast Cancer1unmapped disease
ESR1 D538G	Elacestrant	Predictive	A	Supports Sensitivity Response	3	submitted	EID12219 In the randomized, open-label, phase 3 EMERALD trial (NCT03778931), the selective ER-degrader (SERD) elacestrant was assessed in ER+/HER2- breast cancer patients who had previously been treated with e… (full text at CIViC) PMID 35584336 · Bidard et al., 2022 · Open in CIViC	civic

Unmapped disease1unmapped disease
ESR1 D538G	(functional)	Functional	D	Supports Gain Of Function	3	submitted	EID10018 MCF7 and SKBR3 cells were transfected with WT and mutant (Y537S, S463P/D538G, and D538G) ESR1. Their activity in the absence of ligand was measured with a luciferase assay. The mutants showed increase… (full text at CIViC) PMID 24185512 · Toy et al., 2013 · Open in CIViC	civic