ESR1 c.1604C>A ;(p.P535H)

Variant ID: 6-152419917-C-A

NM_000125.3(ESR1):c.1604C>A;(p.P535H)

This variant was identified in 26 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: P535H
PubMed Link: 36401732
Variant Present in the following documents:
  • 10549_2022_6797_MOESM1_ESM.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: P535H
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
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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: P535H
PubMed Link: 35923930
Variant Present in the following documents:
  • Main text
  • 10.1177_17588359221113694.pdf
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Predictors of fulvestrant long-term benefit in hormone receptor-positive/HER2 negative advanced breast cancer.

Scientific Reports
Torrisi, Rosalba R; Vaira, Valentina V; Giordano, Laura L; Destro, Annarita A; Basilico, Vera V; Mazzara, Saveria S; Salvini, Piermario P; Gaudioso, Gabriella G; Fernandes, Bethania B; Rudini, Noemi N; Masci, Giovanna G; Santoro, Armando A
Publication Date: 2022-07-27

Variant appearance in text: ESR1: P535H
PubMed Link: 35896637
Variant Present in the following documents:
  • Main text
  • 41598_2022_16409_MOESM1_ESM.xlsx, sheet 1
  • 41598_2022_Article_16409.pdf
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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: ESR1: P535H
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 12
View BVdb publication page



The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer
Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J
Publication Date: 2022-02

Variant appearance in text: ESR1: Pro535His
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
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: Pro535His
PubMed Link: 33671468
Variant Present in the following documents:
  • Main text
  • genes-12-00285.pdf
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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: P535H
PubMed Link: 33451133
Variant Present in the following documents:
  • Main text
  • ijms-22-00756.pdf
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs1057519716
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A phase 1b study evaluating the effect of elacestrant treatment on estrogen receptor availability and estradiol binding to the estrogen receptor in metastatic breast cancer lesions using 18F-FES PET/CT imaging.

Breast Cancer Research : Bcr
Jager, Agnes A; de Vries, Elisabeth G E EGE; der Houven van Oordt, C Willemien Menke-van CWM; Neven, Patrick P; Venema, Clasina M CM; Glaudemans, Andor W J M AWJM; Wang, Yamei Y; Bagley, Rebecca G RG; Conlan, Maureen G MG; Aftimos, Philippe P
Publication Date: 2020-09-11

Variant appearance in text: ESR1: P535H
PubMed Link: 32912274
Variant Present in the following documents:
  • Main text
  • 13058_2020_Article_1333.pdf
View BVdb publication page



Quantitative Evaluation of the Transcriptional Activity of Steroid Hormone Receptor Mutants and Variants Using a Single Vector With Two Reporters and a Receptor Expression Cassette.

Frontiers In Endocrinology
Ji, Huimin H; Li, Ying Y; Liu, Zhao Z; Tang, Min M; Zou, Lihui L; Su, Fei F; Zhang, Yaqun Y; Zhang, Junhua J; Li, Hexin H; Li, Lin L; Ai, Bin B; Ma, Jie J; Wang, Lunan L; Liu, Ming M; Xiao, Fei F
Publication Date: 2020

Variant appearance in text: ESR1: P535H
PubMed Link: 32296391
Variant Present in the following documents:
  • fendo-11-00167.pdf
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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports
López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E
Publication Date: 2020-03-24

Variant appearance in text: ESR1: P535H
PubMed Link: 32210335
Variant Present in the following documents:
  • 41598_2020_62279_MOESM2_ESM.xlsx, sheet 40
  • 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33
View BVdb publication page



Dynamics Insights Into the Gain of Flexibility by Helix-12 in ESR1 as a Mechanism of Resistance to Drugs in Breast Cancer Cell Lines.

Frontiers In Molecular Biosciences
Khan, Abbas A; Ashfaq-Ur-Rehman, ; Junaid, Muhammad M; Li, Cheng-Dong CD; Saleem, Shoaib S; Humayun, Fahad F; Shamas, Shazia S; Ali, Syed Shujait SS; Babar, Zainib Z; Wei, Dong-Qing DQ
Publication Date: 2019

Variant appearance in text: ESR1: P535H
PubMed Link: 32039233
Variant Present in the following documents:
  • Main text
  • fmolb-06-00159.pdf
View BVdb publication page



Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel.

Cancers
Froyen, Guy G; Le Mercier, Marie M; Lierman, Els E; Vandepoele, Karl K; Nollet, Friedel F; Boone, Elke E; Van der Meulen, Joni J; Jacobs, Koen K; Lambin, Suzan S; Vander Borght, Sara S; Van Valckenborgh, Els E; Antoniou, Aline A; Hébrant, Aline A
Publication Date: 2019-12-16

Variant appearance in text: ESR1: P535H
PubMed Link: 31888289
Variant Present in the following documents:
  • Main text
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: P535H
PubMed Link: 31318440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: ESR1: P535H
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: ESR1: P535H
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 3
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: P535H
PubMed Link: 29234250
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: Pro535His
PubMed Link: 27761212
Variant Present in the following documents:
  • Main text
  • ijcp-09-04-6565.pdf
View BVdb publication page



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: P535H
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: P535H
PubMed Link: 27174596
Variant Present in the following documents:
  • Main text
  • ncomms11579.pdf
  • ncomms11579-s1.pdf
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ESR1 mutations—a mechanism for acquired endocrine resistance in breast cancer.

Nature Reviews. Clinical Oncology
Jeselsohn, Rinath R; Buchwalter, Gilles G; De Angelis, Carmine C; Brown, Myles M; Schiff, Rachel R
Publication Date: 2015-10

Variant appearance in text: ESR1: P535H
PubMed Link: 26122181
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Pro535His
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: P535H
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: Pro535His
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: P535H
PubMed Link: 24185512
Variant Present in the following documents:
  • Main text
  • nihms531250.pdf
View BVdb publication page