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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