ESR1 L536Q

CI-VAR-00002361Explore in graph →ENST00000440973.1:c.1607_1608delinsAGCIViC 46

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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
Malignant Breast Neoplasm2
ESR1 L536Q	Hormone Therapy	Predictive	D	Supports Resistance	3	accepted	EID242 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	civic
ESR1 L536Q	Fulvestrant + TamoxifenSubstitutes	Predictive	D	Supports Sensitivity Response	5	accepted	EID290 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

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 L536Q	Elacestrant	Predictive	A	Supports Sensitivity Response	2	submitted	EID12229 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