Target General Information
Target ID T89534
Target Name Estrogen receptor (ESR1)
Gene Name ESR1
Species Homo sapiens
UniProt ID ESR1_HUMAN
Sequence MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAY
EFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPF
LQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAK
ETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQAC
RLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKR
SKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINW
AKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEG
MVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLD
KITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLL
LEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV [Hom
o sapiens]
Drug and Corresponding Resistance Mutations
Mutation Info Missense: D538G
Drugs
Drug Name Endocrine Therapy Drug Info [4]
Mutation Prevalence 9 out of 28 patients
Mutation Info Missense: E380Q
Drugs
Drug Name Tamoxifen Drug Info [1], [2], [3]
Targeted Disease Breast Cancer
Mutation Prevalence 11 out of 76 patients
Mutation Info Missense: L536-D538 > P
Drugs
Drug Name Endocrine Therapy Drug Info [4]
Mutation Prevalence 1 out of 28 patients
Mutation Info Missense: L536Q
Drugs
Drug Name Endocrine Therapy Drug Info [1]
Mutation Prevalence 1 out of 11 patients
Mutation Info Missense: P535H
Drugs
Drug Name Tamoxifen Drug Info [1], [2], [3]
Targeted Disease Breast Cancer
Mutation Info Missense: Y537C
Drugs
Drug Name Endocrine Therapy Drug Info [2], [4], [5]
Mutation Prevalence 4 out of 28 patients
Mutation Info Missense: Y537N
Drugs
Drug Name Endocrine Therapy Drug Info [5]
Mutation Prevalence 4 out of 270 patients
Mutation Info Missense: Y537S
Drugs
Drug Name Endocrine Therapy Drug Info [5]
Mutation Prevalence 5 out of 270 patients
References
REF 1 Activating ESR1 mutations in hormone-resistant metastatic breast cancer. Nat Genet. 2013 Dec;45(12):1446-51.
REF 2 ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nat Genet. 2013 Dec;45(12):1439-45.
REF 3 Emergence of constitutively active estrogen receptor- mutations in pretreated advanced estrogen receptor-positive breast cancer. Clin Cancer Res. 2014 Apr 1;20(7):1757-1767.
REF 4 Incidence and clinical significance of ESR1 mutations in heavily pretreated metastatic breast cancer patients. Onco Targets Ther. 2015 Nov 11;8:3323-8.
REF 5 Droplet digital polymerase chain reaction assay for screening of ESR1 mutations in 325 breast cancer specimens. Transl Res. 2015 Dec;166(6):540-553.e2.

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