ESR1 c.1607T>A ;(p.L536H)

Variant ID: 6-152419920-T-A

NM_000125.3(ESR1):c.1607T>A;(p.L536H)

This variant was identified in 48 publications

View GRCh38 version.




Publications:


ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: ESR1: 1607T>A; L536H
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
View BVdb publication page



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: L536H
PubMed Link: 36401732
Variant Present in the following documents:
  • 10549_2022_6797_MOESM1_ESM.pdf
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: L536H
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



S6K1 amplification confers innate resistance to CDK4/6 inhibitors through activating c-Myc pathway in patients with estrogen receptor-positive breast cancer.

Molecular Cancer
Mo, Hongnan H; Liu, Xuefeng X; Xue, Yu Y; Chen, Hongyan H; Guo, Shichao S; Li, Zhangfu Z; Wang, Shuang S; Li, Caiming C; Han, Jiashu J; Fu, Ming M; Song, Yongmei Y; Li, Dan D; Ma, Fei F
Publication Date: 2022-08-30

Variant appearance in text: ESR1: 1607T>A; L536H
PubMed Link: 36042494
Variant Present in the following documents:
  • Main text
  • 12943_2022_1642_MOESM4_ESM.xlsx, sheet 1
  • 12943_2022_Article_1642.pdf
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: L536H
PubMed Link: 36038884
Variant Present in the following documents:
  • 13073_2022_1104_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Detection of ESR1 Mutations in Primary Tumors and Plasma Cell-Free DNA in High-Grade Serous Ovarian Carcinoma Patients.

Cancers
Stergiopoulou, Dimitra D; Markou, Athina A; Giannopoulou, Lydia L; Buderath, Paul P; Balgkouranidou, Ioanna I; Xenidis, Nikolaos N; Kakolyris, Stylianos S; Kasimir-Bauer, Sabine S; Lianidou, Evi E
Publication Date: 2022-08-04

Variant appearance in text: ESR1: L536H
PubMed Link: 35954453
Variant Present in the following documents:
  • Main text
  • cancers-14-03790.pdf
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: L536H
PubMed Link: 35926241
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



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: L536H
PubMed Link: 35896637
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_16409.pdf
View BVdb publication page



AMEERA-1 phase 1/2 study of amcenestrant, SAR439859, in postmenopausal women with ER-positive/HER2-negative advanced breast cancer.

Nature Communications
Bardia, Aditya A; Chandarlapaty, Sarat S; Linden, Hannah M HM; Ulaner, Gary A GA; Gosselin, Alice A; Cartot-Cotton, Sylvaine S; Cohen, Patrick P; Doroumian, Séverine S; Paux, Gautier G; Celanovic, Marina M; Pelekanou, Vasiliki V; Ming, Jeffrey E JE; Ternès, Nils N; Bouaboula, Monsif M; Lee, Joon Sang JS; Bauchet, Anne-Laure AL; Campone, Mario M
Publication Date: 2022-07-15

Variant appearance in text: ESR1: L536H
PubMed Link: 35840573
Variant Present in the following documents:
  • Main text
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: L536H
PubMed Link: 35819403
Variant Present in the following documents:
  • cd-21-1547_supplementary_table_1_suppst1.xlsx, sheet 1
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: ESR1: 1607T>A; L536H
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Cell-free DNA analysis in current cancer clinical trials: a review.

British Journal Of Cancer
Cisneros-Villanueva, M M; Hidalgo-Pérez, L L; Rios-Romero, M M; Cedro-Tanda, A A; Ruiz-Villavicencio, C A CA; Page, K K; Hastings, R R; Fernandez-Garcia, D D; Allsopp, R R; Fonseca-Montaño, M A MA; Jimenez-Morales, S S; Padilla-Palma, V V; Shaw, J A JA; Hidalgo-Miranda, A A
Publication Date: 2022-01-13

Variant appearance in text: ESR1: L536H
PubMed Link: 35027672
Variant Present in the following documents:
  • Main text
  • 41416_2021_Article_1696.pdf
View BVdb publication page



Cell-free DNA analysis in current cancer clinical trials: a review.

British Journal Of Cancer
Cisneros-Villanueva, M M; Hidalgo-Pérez, L L; Rios-Romero, M M; Cedro-Tanda, A A; Ruiz-Villavicencio, C A CA; Page, K K; Hastings, R R; Fernandez-Garcia, D D; Allsopp, R R; Fonseca-Montaño, M A MA; Jimenez-Morales, S S; Padilla-Palma, V V; Shaw, J A JA; Hidalgo-Miranda, A A
Publication Date: 2022-02

Variant appearance in text: ESR1: L536H
PubMed Link: 35027672
Variant Present in the following documents:
  • Main text
  • 41416_2021_Article_1696.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: ESR1: L536H
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: L536H
PubMed Link: 34440110
Variant Present in the following documents:
  • Main text
View BVdb publication page



ESR1 mutation as an emerging clinical biomarker in metastatic hormone receptor-positive breast cancer.

Breast Cancer Research : Bcr
Brett, Jamie O JO; Spring, Laura M LM; Bardia, Aditya A; Wander, Seth A SA
Publication Date: 2021-08-15

Variant appearance in text: ESR1: L536H
PubMed Link: 34392831
Variant Present in the following documents:
  • Main text
  • 13058_2021_Article_1462.pdf
View BVdb publication page



Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.

Breast Cancer Research And Treatment
Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA
Publication Date: 2021-07

Variant appearance in text: ESR1: L536H
PubMed Link: 34097174
Variant Present in the following documents:
  • Main text
  • 10549_2021_6220_MOESM2_ESM.xlsx, sheet 4
  • 10549_2021_Article_6220.pdf
View BVdb publication page



Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer.

Jnci Cancer Spectrum
Dahlgren, Malin M; George, Anthony M AM; Brueffer, Christian C; Gladchuk, Sergii S; Chen, Yilun Y; Vallon-Christersson, Johan J; Hegardt, Cecilia C; Häkkinen, Jari J; Rydén, Lisa L; Malmberg, Martin M; Larsson, Christer C; Gruvberger-Saal, Sofia K SK; Ehinger, Anna A; Loman, Niklas N; Borg, Åke Å; Saal, Lao H LH
Publication Date: 2021-04

Variant appearance in text: ESR1: L536H
PubMed Link: 33937624
Variant Present in the following documents:
  • Main text
View BVdb publication page



Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients.

Scientific Reports
Muendlein, Axel A; Geiger, Kathrin K; Gaenger, Stella S; Dechow, Tobias T; Nonnenbroich, Christoph C; Leiherer, Andreas A; Drexel, Heinz H; Gaumann, Andreas A; Jagla, Wolfgang W; Winder, Thomas T; Mayer, Frank F; Decker, Thomas T
Publication Date: 2021-03-24

Variant appearance in text: ESR1: 1607T>A; Leu536His
PubMed Link: 33762647
Variant Present in the following documents:
  • 41598_2021_86238_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Phase I Study of Elacestrant (RAD1901), a Novel Selective Estrogen Receptor Degrader, in ER-Positive, HER2-Negative Advanced Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Bardia, Aditya A; Kaklamani, Virginia V; Wilks, Sharon S; Weise, Amy A; Richards, Donald D; Harb, Wael W; Osborne, Cynthia C; Wesolowski, Robert R; Karuturi, Meghan M; Conkling, Paul P; Bagley, Rebecca G RG; Wang, Yamei Y; Conlan, Maureen G MG; Kabos, Peter P
Publication Date: 2021-04-20

Variant appearance in text: ESR1: L536H
PubMed Link: 33513026
Variant Present in the following documents:
  • jco-39-1360.pdf
View BVdb publication page



Genomic profile of metastatic breast cancer patient-derived xenografts established using percutaneous biopsy.

Journal Of Translational Medicine
Kim, Seongyeong S; Shin, Dongjin D; Min, Ahrum A; Kim, Minjung M; Na, Deukchae D; Lee, Han-Byeol HB; Ryu, Han Suk HS; Yang, Yaewon Y; Woo, Go-Un GU; Lee, Kyung-Hun KH; Lee, Dae-Won DW; Kim, Tae-Yong TY; Lee, Charles C; Im, Seock-Ah SA; Kim, Jong-Il JI
Publication Date: 2021-01-06

Variant appearance in text: ESR1: L536H
PubMed Link: 33407601
Variant Present in the following documents:
  • Main text
  • 12967_2020_Article_2607.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ESR1: 1607T>A; L536H
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: ESR1: L536H
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: ESR1: 1607T>A; L536H
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: ESR1: L536H
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
  • Table_2.xlsx, sheet 7
  • Table_2.xlsx, sheet 1
  • Table_6.xlsx, sheet 9
  • Table_1.xlsx, sheet 4
  • Table_1.xlsx, sheet 8
  • Table_6.xlsx, sheet 4
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: L536H
PubMed Link: 32912274
Variant Present in the following documents:
  • Main text
  • 13058_2020_Article_1333.pdf
View BVdb publication page



The genomic landscape of metastatic breast cancer: Insights from 11,000 tumors.

Plos One
Rinaldi, Jacob J; Sokol, Ethan S ES; Hartmaier, Ryan J RJ; Trabucco, Sally E SE; Frampton, Garrett M GM; Goldberg, Michael E ME; Albacker, Lee A LA; Daemen, Anneleen A; Manning, Gerard G
Publication Date: 2020

Variant appearance in text: ESR1: L536H
PubMed Link: 32374727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers
Hamid, Abdulaziz B AB; Petreaca, Ruben C RC
Publication Date: 2020-04-09

Variant appearance in text: ESR1: L536H
PubMed Link: 32283832
Variant Present in the following documents:
  • Main text
  • cancers-12-00927.pdf
  • cancers-12-00927-s001.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: ESR1: L536H
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: L536H
PubMed Link: 32039233
Variant Present in the following documents:
  • Main text
  • fmolb-06-00159.pdf
View BVdb publication page



Prevalence of ESR1 Mutation in Chinese ER-Positive Breast Cancer.

Oncotargets And Therapy
Zhu, Wenzhen W; Ren, Chongyang C; Wang, Yulei Y; Wen, Lingzhu L; Zhang, Guochun G; Liao, Ning N
Publication Date: 2020

Variant appearance in text: ESR1: L536H
PubMed Link: 32021303
Variant Present in the following documents:
  • Main text
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: L536H
PubMed Link: 31888289
Variant Present in the following documents:
  • cancers-11-02030.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: ESR1: Leu536His
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
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: L536H
PubMed Link: 31318440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: ESR1: 1607T>A; L536H
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 2
  • Table_2.xls, sheet 1
View BVdb publication page



Analysis of error profiles in deep next-generation sequencing data.

Genome Biology
Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J
Publication Date: 2019-03-14

Variant appearance in text: ESR1: L536H
PubMed Link: 30867008
Variant Present in the following documents:
  • 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



ESR1 mutations in metastatic lobular breast cancer patients.

Npj Breast Cancer
Desmedt, Christine C; Pingitore, Julien J; Rothé, Françoise F; Marchio, Caterina C; Clatot, Florian F; Rouas, Ghizlane G; Richard, François F; Bertucci, François F; Mariani, Odette O; Galant, Christine C; Fribbens, Charlotte C; O'Leary, Ben B; van den Eynden, Gert G; Salgado, Roberto R; Turner, Nicholas C NC; Piccart, Martine M; Vincent-Salomon, Anne A; Pruneri, Giancarlo G; Larsimont, Denis D; Sotiriou, Christos C
Publication Date: 2019

Variant appearance in text: ESR1: L536H
PubMed Link: 30820448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Scientific Reports
Kaur, Pushpinder P; Porras, Tania B TB; Ring, Alexander A; Carpten, John D JD; Lang, Julie E JE
Publication Date: 2019-02-06

Variant appearance in text: ESR1: L536H
PubMed Link: 30728399
Variant Present in the following documents:
  • 41598_2018_37574_MOESM1_ESM.pdf
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: ESR1: 1607T>A; L536H
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
  • 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical value of circulating ESR1 mutations for patients with metastatic breast cancer: a meta-analysis.

Cancer Management And Research
Zhang, Kai K; Hong, Ruoxi R; Xu, Fei F; Xia, Wen W; Kaping, Lee L; Qin, Ge G; Zheng, Qiufan Q; Lu, Qianyi Q; Shi, Yan Xia YX; Yuan, Zhong Yu ZY; Wang, Shusen S
Publication Date: 2018

Variant appearance in text: ESR1: L536H
PubMed Link: 30147360
Variant Present in the following documents:
  • Main text
  • cmar-10-2573.pdf
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: ESR1: L536H
PubMed Link: 29936259
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  • mmc12.xlsx, sheet 1
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High-sensitivity assay for monitoring ESR1 mutations in circulating cell-free DNA of breast cancer patients receiving endocrine therapy.

Scientific Reports
Lupini, Laura L; Moretti, Anna A; Bassi, Cristian C; Schirone, Alessio A; Pedriali, Massimo M; Querzoli, Patrizia P; Roncarati, Roberta R; Frassoldati, Antonio A; Negrini, Massimo M
Publication Date: 2018-03-12

Variant appearance in text: ESR1: L536H
PubMed Link: 29531247
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  • Main text
  • 41598_2018_Article_22312.pdf
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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: L536H
PubMed Link: 29234250
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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: L536H
PubMed Link: 28945887
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  • mdx490.pdf
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Acquired CYP19A1 amplification is an early specific mechanism of aromatase inhibitor resistance in ERα metastatic breast cancer.

Nature Genetics
Magnani, Luca L; Frige, Gianmaria G; Gadaleta, Raffaella Maria RM; Corleone, Giacomo G; Fabris, Sonia S; Kempe, Mannus H MH; Verschure, Pernette J PJ; Barozzi, Iros I; Vircillo, Valentina V; Hong, Sung-Pil SP; Perone, Ylenia Y; Saini, Massimo M; Trumpp, Andreas A; Viale, Giuseppe G; Neri, Antonino A; Ali, Simak S; Colleoni, Marco Angelo MA; Pruneri, Giancarlo G; Minucci, Saverio S
Publication Date: 2017-03

Variant appearance in text: ESR1: Leu536His
PubMed Link: 28112739
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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: L536H
PubMed Link: 27986707
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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: L536H
PubMed Link: 27174596
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