ESR1 c.1601T>A ;(p.V534E)

Variant ID: 6-152419914-T-A

NM_000125.3(ESR1):c.1601T>A;(p.V534E)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


The oral selective estrogen receptor degrader GDC-0810 (ARN-810) in postmenopausal women with hormone receptor-positive HER2-negative (HR + /HER2 -) advanced/metastatic breast cancer.

Breast Cancer Research And Treatment
Bardia, Aditya A; Mayer, Ingrid I; Winer, Eric E; Linden, Hannah M HM; Ma, Cynthia X CX; Parker, Barbara A BA; Bellet, Meritxell M; Arteaga, Carlos L CL; Cheeti, Sravanthi S; Gates, Mary M; Chang, Ching-Wei CW; Fredrickson, Jill J; Spoerke, Jill M JM; Moore, Heather M HM; Giltnane, Jennifer J; Friedman, Lori S LS; Chow Maneval, Edna E; Chan, Iris I; Jhaveri, Komal K
Publication Date: 2022-11-19

Variant appearance in text: ESR1: V534E
PubMed Link: 36401732
Variant Present in the following documents:
  • 10549_2022_6797_MOESM1_ESM.pdf
View BVdb publication page



Improving prediction of response to neoadjuvant treatment in patients with breast cancer by combining liquid biopsies with multiparametric MRI: protocol of the LIMA study - a multicentre prospective observational cohort study.

Bmj Open
Janssen, Liselore M LM; Suelmann, Britt B M BBM; Elias, Sjoerd G SG; Janse, Markus H A MHA; van Diest, Paul J PJ; van der Wall, Elsken E; Gilhuijs, Kenneth G A KGA
Publication Date: 2022-09-20

Variant appearance in text: ESR1: V534E
PubMed Link: 36127090
Variant Present in the following documents:
  • bmjopen-2022-061334supp001.pdf
  • bmjopen-2022-061334.draft_revisions.pdf
  • bmjopen-2022-061334.reviewer_comments.pdf
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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: ESR1: 1601T>A; V534E
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Next-generation selective estrogen receptor degraders and other novel endocrine therapies for management of metastatic hormone receptor-positive breast cancer: current and emerging role.

Therapeutic Advances In Medical Oncology
Lloyd, Maxwell R MR; Wander, Seth A SA; Hamilton, Erika E; Razavi, Pedram P; Bardia, Aditya A
Publication Date: 2022

Variant appearance in text: ESR1: V534E
PubMed Link: 35923930
Variant Present in the following documents:
  • Main text
  • 10.1177_17588359221113694.pdf
View BVdb publication page



Estrogen Receptor Bio-Activities Determine Clinical Endocrine Treatment Options in Estrogen Receptor-Positive Breast Cancer.

Technology In Cancer Research & Treatment
Xia, Song S; Lin, Qiong Q
Publication Date: 2022

Variant appearance in text: ESR1: V534E
PubMed Link: 35450488
Variant Present in the following documents:
  • Main text
  • 10.1177_15330338221090351.pdf
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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ESR1: V534E
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Clinical Utility of Liquid Biopsy-Based Actionable Mutations Detected via ddPCR.

Biomedicines
Palacín-Aliana, Irina I; García-Romero, Noemí N; Asensi-Puig, Adrià A; Carrión-Navarro, Josefa J; González-Rumayor, Víctor V; Ayuso-Sacido, Ángel Á
Publication Date: 2021-07-28

Variant appearance in text: ESR1: V534E
PubMed Link: 34440110
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00906.pdf
View BVdb publication page



Estrogen receptor-α signaling in post-natal mammary development and breast cancers.

Cellular And Molecular Life Sciences : Cmls
Rusidzé, Mariam M; Adlanmérini, Marine M; Chantalat, Elodie E; Raymond-Letron, I I; Cayre, Surya S; Arnal, Jean-François JF; Deugnier, Marie-Ange MA; Lenfant, Françoise F
Publication Date: 2021-08

Variant appearance in text: ESR1: V534E
PubMed Link: 34156490
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Biomarkers for Contemporary Therapies in Hormone Receptor-Positive Breast Cancer.

Genes
Freelander, Allegra A; Brown, Lauren J LJ; Parker, Andrew A; Segara, Davendra D; Portman, Neil N; Lau, Brandon B; Lim, Elgene E
Publication Date: 2021-02-17

Variant appearance in text: ESR1: Val534Glu
PubMed Link: 33671468
Variant Present in the following documents:
  • Main text
  • genes-12-00285.pdf
View BVdb publication page



A Closer Look at Estrogen Receptor Mutations in Breast Cancer and Their Implications for Estrogen and Antiestrogen Responses.

International Journal Of Molecular Sciences
Clusan, Léa L; Le Goff, Pascale P; Flouriot, Gilles G; Pakdel, Farzad F
Publication Date: 2021-01-13

Variant appearance in text: ESR1: V534E
PubMed Link: 33451133
Variant Present in the following documents:
  • Main text
  • ijms-22-00756.pdf
View BVdb publication page



Endocrine Resistance in Breast Cancer: The Role of Estrogen Receptor Stability.

Cells
Jeffreys, Sarah A SA; Powter, Branka B; Balakrishnar, Bavanthi B; Mok, Kelly K; Soon, Patsy P; Franken, André A; Neubauer, Hans H; de Souza, Paul P; Becker, Therese M TM
Publication Date: 2020-09-11

Variant appearance in text: ESR1: V534E
PubMed Link: 32932819
Variant Present in the following documents:
  • Main text
  • cells-09-02077.pdf
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Advances in the Detection Technologies and Clinical Applications of Circulating Tumor DNA in Metastatic Breast Cancer.

Cancer Management And Research
Liao, Hao H; Li, Huiping H
Publication Date: 2020

Variant appearance in text: ESR1: V534E
PubMed Link: 32547192
Variant Present in the following documents:
  • Main text
  • cmar-12-3547.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: ESR1: V534E
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



ESR1 mutations in breast cancer.

Cancer
Dustin, Derek D; Gu, Guowei G; Fuqua, Suzanne A W SAW
Publication Date: 2019-11-01

Variant appearance in text: ESR1: V534E
PubMed Link: 31318440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: ESR1: V534E
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Role of SUMOylation in differential ERα transcriptional repression by tamoxifen and fulvestrant in breast cancer cells.

Oncogene
Traboulsi, Tatiana T; El Ezzy, Mohamed M; Dumeaux, Vanessa V; Audemard, Eric E; Mader, Sylvie S
Publication Date: 2019-02

Variant appearance in text: ESR1: V534E
PubMed Link: 30190545
Variant Present in the following documents:
  • 41388_2018_Article_468.pdf
View BVdb publication page



Are We Ready to Use ESR1 Mutations in Clinical Practice?

Breast Care (Basel, Switzerland)
Jeselsohn, Rinath R
Publication Date: 2017-10

Variant appearance in text: ESR1: V534E
PubMed Link: 29234250
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activating ESR1 Mutations Differentially Affect the Efficacy of ER Antagonists.

Cancer Discovery
Toy, Weiyi W; Weir, Hazel H; Razavi, Pedram P; Lawson, Mandy M; Goeppert, Anne U AU; Mazzola, Anne Marie AM; Smith, Aaron A; Wilson, Joanne J; Morrow, Christopher C; Wong, Wai Lin WL; De Stanchina, Elisa E; Carlson, Kathryn E KE; Martin, Teresa S TS; Uddin, Sharmeen S; Li, Zhiqiang Z; Fanning, Sean S; Katzenellenbogen, John A JA; Greene, Geoffrey G; Baselga, José J; Chandarlapaty, Sarat S
Publication Date: 2017-03

Variant appearance in text: ESR1: V534E
PubMed Link: 27986707
Variant Present in the following documents:
  • Main text
View BVdb publication page



Are Estrogen Receptor Genomic Aberrations Predictive of Hormone Therapy Response in Breast Cancer?

Iranian Journal Of Cancer Prevention
Tabarestani, Sanaz S; Motallebi, Marzieh M; Akbari, Mohammad Esmaeil ME
Publication Date: 2016-08

Variant appearance in text: ESR1: Val534Glu
PubMed Link: 27761212
Variant Present in the following documents:
  • Main text
  • ijcp-09-04-6565.pdf
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Detection and Characterization of Circulating Tumor Associated Cells in Metastatic Breast Cancer.

International Journal Of Molecular Sciences
Mu, Zhaomei Z; Benali-Furet, Naoual N; Uzan, Georges G; Znaty, Anaëlle A; Ye, Zhong Z; Paolillo, Carmela C; Wang, Chun C; Austin, Laura L; Rossi, Giovanna G; Fortina, Paolo P; Yang, Hushan H; Cristofanilli, Massimo M
Publication Date: 2016-09-30

Variant appearance in text: ESR1: V534E
PubMed Link: 27706044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant.

Nature Communications
Spoerke, Jill M JM; Gendreau, Steven S; Walter, Kimberly K; Qiu, Jiaheng J; Wilson, Timothy R TR; Savage, Heidi H; Aimi, Junko J; Derynck, Mika K MK; Chen, Meng M; Chan, Iris T IT; Amler, Lukas C LC; Hampton, Garret M GM; Johnston, Stephen S; Krop, Ian I; Schmid, Peter P; Lackner, Mark R MR
Publication Date: 2016-05-13

Variant appearance in text: ESR1: V534E
PubMed Link: 27174596
Variant Present in the following documents:
  • Main text
  • ncomms11579.pdf
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The molecular, cellular and clinical consequences of targeting the estrogen receptor following estrogen deprivation therapy.

Molecular And Cellular Endocrinology
Fan, Ping P; Maximov, Philipp Y PY; Curpan, Ramona F RF; Abderrahman, Balkees B; Jordan, V Craig VC
Publication Date: 2015-12-15

Variant appearance in text: ESR1: Val534Glu
PubMed Link: 26052034
Variant Present in the following documents:
  • Main text
View BVdb publication page



Estrogen receptor mutations and their role in breast cancer progression.

Breast Cancer Research : Bcr
Alluri, Prasanna G PG; Speers, Corey C; Chinnaiyan, Arul M AM
Publication Date: 2014-12-12

Variant appearance in text: ESR1: V534E
PubMed Link: 25928204
Variant Present in the following documents:
  • Main text
  • 13058_2014_Article_494.pdf
View BVdb publication page



Estrogen receptor mutations found in breast cancer metastases integrated with the molecular pharmacology of selective ER modulators.

Journal Of The National Cancer Institute
Jordan, V Craig VC; Curpan, Ramona R; Maximov, Philipp Y PY
Publication Date: 2015-06

Variant appearance in text: ESR1: Val534Glu
PubMed Link: 25838462
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Nature Genetics
Toy, Weiyi W; Shen, Yang Y; Won, Helen H; Green, Bradley B; Sakr, Rita A RA; Will, Marie M; Li, Zhiqiang Z; Gala, Kinisha K; Fanning, Sean S; King, Tari A TA; Hudis, Clifford C; Chen, David D; Taran, Tetiana T; Hortobagyi, Gabriel G; Greene, Geoffrey G; Berger, Michael M; Baselga, José J; Chandarlapaty, Sarat S
Publication Date: 2013-12

Variant appearance in text: ESR1: V534E
PubMed Link: 24185512
Variant Present in the following documents:
  • Main text
  • nihms531250.pdf
View BVdb publication page