Publication

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Authors not recorded

Nat Genet2013PMID 24185512PMC3903423stubpubmedPublished

Abstract

Abstract (excerpt)

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Linked entities

Linked entities (10)

How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.

Validated 10

cancerMalignant Breast Neoplasmcivic_curation1.00
drugAromatase Inhibitorcivic_curation1.00
drugHormone Therapycivic_curation1.00
geneESR1civic_curation1.00
variantESR1 D538Gcivic_curation1.00
variantESR1 L536Qcivic_curation1.00
variantESR1 S463Pcivic_curation1.00
variantESR1 Y537Ccivic_curation1.00
variantESR1 Y537Ncivic_curation1.00
variantESR1 Y537Scivic_curation1.00

Curated evidence

Evidence citing this paper (8)

civicCuratedShowing 1–8 of 8 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
ESR1 D538G2
Hormone Therapy	Malignant Breast Neoplasm	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
(functional)	—UNRESOLVED	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
ESR1 L536Q1
Hormone Therapy	Malignant Breast Neoplasm	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 Y537C1
Hormone Therapy	Malignant Breast Neoplasm	Predictive	D	Supports Resistance	3	accepted	EID244 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	civic
ESR1 Y537N1
Hormone Therapy	Malignant Breast Neoplasm	Predictive	D	Supports Resistance	3	accepted	EID245 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	civic
ESR1 Y537S2
Hormone Therapy	Malignant Breast Neoplasm	Predictive	D	Supports Resistance	3	accepted	EID246 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	civic
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted	EID10019 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
ESR1 S463P1
Aromatase Inhibitor	Estrogen Receptor-positive Breast CancerUNRESOLVED	Predictive	D	Supports Resistance	2	accepted	EID1727 ESR1 S463P variants were observed after extensive treatment with hormonal therapy (aromatase inhibition). Expression of the S463P mutant was found to induce modest activity in the absence of hormone. … (full text at CIViC) PMID 24185512 · Toy et al., 2013 · Open in CIViC	civic