ESR1 c.1609T>G ;(p.Y537D)

Variant ID: 6-152419922-T-G

NM_000125.3(ESR1):c.1609T>G;(p.Y537D)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24

Variant appearance in text: ESR1: 1609T>G; Tyr537Asp
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Publication Date: 2022-12-05

Variant appearance in text: ESR1: Y537D
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
View BVdb publication page



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: 1609T>G; Y537D
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Genome Medicine
Berrino, Enrico E; Annaratone, Laura L; Bellomo, Sara Erika SE; Ferrero, Giulio G; Gagliardi, Amedeo A; Bragoni, Alberto A; Grassini, Dora D; Guarrera, Simonetta S; Parlato, Caterina C; Casorzo, Laura L; Panero, Mara M; Sarotto, Ivana I; Giordano, Silvia S; Cereda, Matteo M; Montemurro, Filippo F; Ponzone, Riccardo R; Crosetto, Nicola N; Naccarati, Alessio A; Sapino, Anna A; Marchiò, Caterina C
Publication Date: 2022-08-29

Variant appearance in text: ESR1: Y537D
PubMed Link: 36038884
Variant Present in the following documents:
  • 13073_2022_1104_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)
Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q
Publication Date: 2022-10

Variant appearance in text: ESR1: Y537D
PubMed Link: 35926241
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



AACR Project GENIE: 100,000 Cases and Beyond.

Cancer Discovery
Pugh, Trevor J TJ; Bell, Jonathan L JL; Bruce, Jeff P JP; Doherty, Gary J GJ; Galvin, Matthew M; Green, Michelle F MF; Hunter-Zinck, Haley H; Kumari, Priti P; Lenoue-Newton, Michele L ML; Li, Marilyn M MM; Lindsay, James J; Mazor, Tali T; Ovalle, Andrea A; Sammut, Stephen-John SJ; Schultz, Nikolaus N; Yu, Thomas V TV; Sweeney, Shawn M SM; Bernard, Brady B; ,
Publication Date: 2022-09-02

Variant appearance in text: ESR1: Y537D
PubMed Link: 35819403
Variant Present in the following documents:
  • cd-21-1547_supplementary_table_1_suppst1.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: Tyr537Asp
PubMed Link: 33671468
Variant Present in the following documents:
  • Main text
  • genes-12-00285.pdf
View BVdb publication page



Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One
Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R
Publication Date: 2021

Variant appearance in text: ESR1: Y537D
PubMed Link: 33556149
Variant Present in the following documents:
  • pone.0246048.s008.xlsx, sheet 1
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: Y537D
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: Y537D
PubMed Link: 32932819
Variant Present in the following documents:
  • Main text
  • cells-09-02077.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: Y537D
PubMed Link: 32296391
Variant Present in the following documents:
  • fendo-11-00167.pdf
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: Y537D
PubMed Link: 31318440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hybrid capture-based genomic profiling of circulating tumor DNA from patients with estrogen receptor-positive metastatic breast cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Chung, J H JH; Pavlick, D D; Hartmaier, R R; Schrock, A B AB; Young, L L; Forcier, B B; Ye, P P; Levin, M K MK; Goldberg, M M; Burris, H H; Gay, L M LM; Hoffman, A D AD; Stephens, P J PJ; Frampton, G M GM; Lipson, D M DM; Nguyen, D M DM; Ganesan, S S; Park, B H BH; Vahdat, L T LT; Leyland-Jones, B B; Mughal, T I TI; Pusztai, L L; O'Shaughnessy, J J; Miller, V A VA; Ross, J S JS; Ali, S M SM
Publication Date: 2017-11-01

Variant appearance in text: ESR1: Y537D
PubMed Link: 28945887
Variant Present in the following documents:
  • mdx490.pdf
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: Y537D
PubMed Link: 27986707
Variant Present in the following documents:
  • Main text
View BVdb publication page