ESR1 c.1607T>C ;(p.L536P)

Variant ID: 6-152419920-T-C

NM_000125.3(ESR1):c.1607T>C;(p.L536P)

This variant was identified in 50 publications

View GRCh38 version.




Publications:


Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: ESR1: L536P
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 10
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: 1607T>C; L536P
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: L536P
PubMed Link: 36038884
Variant Present in the following documents:
  • 13073_2022_1104_MOESM8_ESM.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: L536P
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: L536P
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: L536P
PubMed Link: 35819403
Variant Present in the following documents:
  • cd-21-1547_supplementary_table_1_suppst1.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: ESR1: L536P
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Primary endocrine resistance of ER+ breast cancer with ESR1 mutations interrogated by droplet digital PCR.

Npj Breast Cancer
Ahn, Sung Gwe SG; Bae, Soong June SJ; Kim, Yoonjung Y; Ji, Jung Hwan JH; Chu, Chihhao C; Kim, Dooreh D; Lee, Janghee J; Cha, Yoon Jin YJ; Lee, Kyung-A KA; Jeong, Joon J
Publication Date: 2022-05-02

Variant appearance in text: ESR1: L536P
PubMed Link: 35501333
Variant Present in the following documents:
  • Main text
  • 41523_2022_Article_424.pdf
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>C; L536P
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



A human breast cancer-derived xenograft and organoid platform for drug discovery and precision oncology.

Nature Cancer
Guillen, Katrin P KP; Fujita, Maihi M; Butterfield, Andrew J AJ; Scherer, Sandra D SD; Bailey, Matthew H MH; Chu, Zhengtao Z; DeRose, Yoko S YS; Zhao, Ling L; Cortes-Sanchez, Emilio E; Yang, Chieh-Hsiang CH; Toner, Jennifer J; Wang, Guoying G; Qiao, Yi Y; Huang, Xiaomeng X; Greenland, Jeffery A JA; Vahrenkamp, Jeffery M JM; Lum, David H DH; Factor, Rachel E RE; Nelson, Edward W EW; Matsen, Cindy B CB; Poretta, Jane M JM; Rosenthal, Regina R; Beck, Anna C AC; Buys, Saundra S SS; Vaklavas, Christos C; Ward, John H JH; Jensen, Randy L RL; Jones, Kevin B KB; Li, Zheqi Z; Oesterreich, Steffi S; Dobrolecki, Lacey E LE; Pathi, Satya S SS; Woo, Xing Yi XY; Berrett, Kristofer C KC; Wadsworth, Mark E ME; Chuang, Jeffrey H JH; Lewis, Michael T MT; Marth, Gabor T GT; Gertz, Jason J; Varley, Katherine E KE; Welm, Bryan E BE; Welm, Alana L AL
Publication Date: 2022-02

Variant appearance in text: ESR1: L536P
PubMed Link: 35221336
Variant Present in the following documents:
  • 43018_2022_337_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Oncogene
Mota, Alba A; Oltra, Sara S SS; Selenica, Pier P; Moiola, Cristian P CP; Casas-Arozamena, Carlos C; López-Gil, Carlos C; Diaz, Eva E; Gatius, Sonia S; Ruiz-Miro, María M; Calvo, Ana A; Rojo-Sebastián, Alejandro A; Hurtado, Pablo P; Piñeiro, Roberto R; Colas, Eva E; Gil-Moreno, Antonio A; Reis-Filho, Jorge S JS; Muinelo-Romay, Laura L; Abal, Miguel M; Matias-Guiu, Xavier X; Weigelt, Britta B; Moreno-Bueno, Gema G
Publication Date: 2022-03

Variant appearance in text: ESR1: L536P
PubMed Link: 35145232
Variant Present in the following documents:
  • 41388_2022_2221_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Transcriptional Reprogramming Differentiates Active from Inactive ESR1 Fusions in Endocrine Therapy-Refractory Metastatic Breast Cancer.

Cancer Research
Gou, Xuxu X; Anurag, Meenakshi M; Lei, Jonathan T JT; Kim, Beom-Jun BJ; Singh, Purba P; Seker, Sinem S; Fandino, Diana D; Han, Airi A; Rehman, Saif S; Hu, Jianhong J; Korchina, Viktoriya V; Doddapaneni, Harshavardhan H; Dobrolecki, Lacey E LE; Mitsiades, Nicholas N; Lewis, Michael T MT; Welm, Alana L AL; Li, Shunqiang S; Lee, Adrian V AV; Robinson, Dan R DR; Foulds, Charles E CE; Ellis, Matthew J MJ
Publication Date: 2021-12-15

Variant appearance in text: ESR1: L536P
PubMed Link: 34711608
Variant Present in the following documents:
  • Main text
  • 6259.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: L536P
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: L536P
PubMed Link: 34392831
Variant Present in the following documents:
  • Main text
  • 13058_2021_Article_1462.pdf
View BVdb publication page



Complementary Sequential Circulating Tumor Cell (CTC) and Cell-Free Tumor DNA (ctDNA) Profiling Reveals Metastatic Heterogeneity and Genomic Changes in Lung Cancer and Breast Cancer.

Frontiers In Oncology
Kong, Say Li SL; Liu, Xingliang X; Tan, Swee Jin SJ; Tai, Joyce A JA; Phua, Ler Yee LY; Poh, Huay Mei HM; Yeo, Trifanny T; Chua, Yong Wei YW; Haw, Yu Xuan YX; Ling, Wen Huan WH; Ng, Raymond Chee Hui RCH; Tan, Tira J TJ; Loh, Kiley Wei Jen KWJ; Tan, Daniel Shao-Weng DS; Ng, Quan Sing QS; Ang, Mei Kim MK; Toh, Chee Keong CK; Lee, Yi Fang YF; Lim, Chwee Teck CT; Lim, Tony Kiat Hon TKH; Hillmer, Axel M AM; Yap, Yoon Sim YS; Lim, Wan-Teck WT
Publication Date: 2021

Variant appearance in text: ESR1: L536P
PubMed Link: 34336686
Variant Present in the following documents:
  • Table_1.xlsx, sheet 8
View BVdb publication page



Comprehensive characterization of distinct genetic alterations in metastatic breast cancer across various metastatic sites.

Npj Breast Cancer
Cha, Soojin S; Lee, Esak E; Won, Hong-Hee HH
Publication Date: 2021-07-16

Variant appearance in text: ESR1: L536P
PubMed Link: 34272397
Variant Present in the following documents:
  • 41523_2021_303_MOESM2_ESM.pdf
View BVdb publication page



Longitudinal Dynamics of Circulating Tumor Cells and Circulating Tumor DNA for Treatment Monitoring in Metastatic Breast Cancer.

Jco Precision Oncology
Gerratana, Lorenzo L; Davis, Andrew A AA; Zhang, Qiang Q; Basile, Debora D; Rossi, Giovanna G; Strickland, Kimberly K; Franzoni, Alessandra A; Allegri, Lorenzo L; Mu, Zhaomei Z; Zhang, Youbin Y; Flaum, Lisa E LE; Damante, Giuseppe G; Gradishar, William John WJ; Platanias, Leonidas C LC; Behdad, Amir A; Yang, Hushan H; Puglisi, Fabio F; Cristofanilli, Massimo M
Publication Date: 2021-06

Variant appearance in text: ESR1: L536P
PubMed Link: 34136741
Variant Present in the following documents:
  • po-5-943.pdf
View BVdb publication page



Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Genome Medicine
Tsui, Dana W Y DWY; Cheng, Michael L ML; Shady, Maha M; Yang, Julie L JL; Stephens, Dennis D; Won, Helen H; Srinivasan, Preethi P; Huberman, Kety K; Meng, Fanli F; Jing, Xiaohong X; Patel, Juber J; Hasan, Maysun M; Johnson, Ian I; Gedvilaite, Erika E; Houck-Loomis, Brian B; Socci, Nicholas D ND; Selcuklu, S Duygu SD; Seshan, Venkatraman E VE; Zhang, Hongxin H; Chakravarty, Debyani D; Zehir, Ahmet A; Benayed, Ryma R; Arcila, Maria M; Ladanyi, Marc M; Funt, Samuel A SA; Feldman, Darren R DR; Li, Bob T BT; Razavi, Pedram P; Rosenberg, Jonathan J; Bajorin, Dean D; Iyer, Gopa G; Abida, Wassim W; Scher, Howard I HI; Rathkopf, Dana D; Viale, Agnes A; Berger, Michael F MF; Solit, David B DB
Publication Date: 2021-05-31

Variant appearance in text: ESR1: L536P
PubMed Link: 34059130
Variant Present in the following documents:
  • 13073_2021_898_MOESM4_ESM.xlsx, sheet 1
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: L536P
PubMed Link: 33937624
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating tumor DNA dynamics in advanced breast cancer treated with CDK4/6 inhibition and endocrine therapy.

Npj Breast Cancer
Martínez-Sáez, Olga O; Pascual, Tomás T; Brasó-Maristany, Fara F; Chic, Nuria N; González-Farré, Blanca B; Sanfeliu, Esther E; Rodríguez, Adela A; Martínez, Débora D; Galván, Patricia P; Rodríguez, Anna Belén AB; Schettini, Francesco F; Conte, Benedetta B; Vidal, Maria M; Adamo, Barbara B; Martínez, Antoni A; Muñoz, Montserrat M; Moreno, Reinaldo R; Villagrasa, Patricia P; Salvador, Fernando F; Ciruelos, Eva M EM; Faull, Iris I; Odegaard, Justin I JI; Prat, Aleix A
Publication Date: 2021-02-03

Variant appearance in text: ESR1: 1607T>C; L536P
PubMed Link: 33536433
Variant Present in the following documents:
  • 41523_2021_218_MOESM2_ESM.xlsx, sheet 1
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>C; L536P
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: L536P
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



HIF1A signaling selectively supports proliferation of breast cancer in the brain.

Nature Communications
Ebright, Richard Y RY; Zachariah, Marcus A MA; Micalizzi, Douglas S DS; Wittner, Ben S BS; Niederhoffer, Kira L KL; Nieman, Linda T LT; Chirn, Brian B; Wiley, Devon F DF; Wesley, Benjamin B; Shaw, Brian B; Nieblas-Bedolla, Edwin E; Atlas, Lian L; Szabolcs, Annamaria A; Iafrate, Anthony J AJ; Toner, Mehmet M; Ting, David T DT; Brastianos, Priscilla K PK; Haber, Daniel A DA; Maheswaran, Shyamala S
Publication Date: 2020-12-09

Variant appearance in text: ESR1: Leu536Pro
PubMed Link: 33298946
Variant Present in the following documents:
  • 41467_2020_20144_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



RON signalling promotes therapeutic resistance in ESR1 mutant breast cancer.

British Journal Of Cancer
Dustin, Derek D; Gu, Guowei G; Beyer, Amanda R AR; Herzog, Sarah K SK; Edwards, David G DG; Lin, Hangqing H; Gonzalez, Thomas L TL; Grimm, Sandra L SL; Coarfa, Cristian C; Chan, Doug W DW; Kim, Beom-Jun BJ; De La O, Jean-Paul JP; Ellis, Matthew J MJ; Liu, Dan D; Li, Shunqiang S; Welm, Alana L AL; Fuqua, Suzanne A W SAW
Publication Date: 2021-01

Variant appearance in text: ESR1: L536P
PubMed Link: 33257837
Variant Present in the following documents:
  • Main text
  • 41416_2020_Article_1174.pdf
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>C; L536P
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine
Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ
Publication Date: 2020-10

Variant appearance in text: ESR1: L536P
PubMed Link: 33001984
Variant Present in the following documents:
  • pmed.1003363.s013.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: L536P
PubMed Link: 32912274
Variant Present in the following documents:
  • Main text
  • 13058_2020_Article_1333.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: L536P
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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: L536P
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Molecular Barcode Sequencing of the Whole Ligand Binding Domain of the ESR1 Gene in Cell-Free DNA from Patients with Metastatic Breast Cancer.

Translational Oncology
Masunaga, Nanae N; Kagara, Naofumi N; Motooka, Daisuke D; Nakamura, Shota S; Miyake, Tomohiro T; Tanei, Tomonori T; Naoi, Yasuto Y; Shimoda, Masafumi M; Shimazu, Kenzo K; Kim, Seung Jin SJ; Noguchi, Shinzaburo S
Publication Date: 2020-03

Variant appearance in text: ESR1: L536P
PubMed Link: 32105989
Variant Present in the following documents:
  • Main text
  • main.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: Leu536Pro
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



Extremely rare case of intravascular solitary fibrous tumour in the inferior vena cava with review of the literature.

Diagnostic Pathology
Fan, Jingyuan J; Qiu, Jinfeng J; Wei, Qingjun Q
Publication Date: 2019-08-07

Variant appearance in text: ESR1: L536P
PubMed Link: 31391089
Variant Present in the following documents:
  • Main text
  • 13000_2019_Article_862.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: L536P
PubMed Link: 31318440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
Publication Date: 2019-05

Variant appearance in text: ESR1: L536P
PubMed Link: 31011206
Variant Present in the following documents:
  • NIHMS1522524-supplement-Supplementary_Text_and_Tables_3-10.pdf
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: L536P
PubMed Link: 30820448
Variant Present in the following documents:
  • 41523_2019_Article_104.pdf
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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: L536P
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
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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>C; L536P
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
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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: L536P
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: ESR1: L536P
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
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Phase Ib study evaluating safety and clinical activity of the anti-HER3 antibody lumretuzumab combined with the anti-HER2 antibody pertuzumab and paclitaxel in HER3-positive, HER2-low metastatic breast cancer.

Investigational New Drugs
Schneeweiss, Andreas A; Park-Simon, Tjoung-Won TW; Albanell, Joan J; Lassen, Ulrik U; Cortés, Javier J; Dieras, Veronique V; May, Marcus M; Schindler, Christoph C; Marmé, Frederik F; Cejalvo, Juan Miguel JM; Martinez-Garcia, Maria M; Gonzalez, Iria I; Lopez-Martin, Jose J; Welt, Anja A; Levy, Christelle C; Joly, Florence F; Michielin, Francesca F; Jacob, Wolfgang W; Adessi, Céline C; Moisan, Annie A; Meneses-Lorente, Georgina G; Racek, Tomas T; James, Ian I; Ceppi, Maurizio M; Hasmann, Max M; Weisser, Martin M; Cervantes, Andrés A
Publication Date: 2018-10

Variant appearance in text: ESR1: L536P
PubMed Link: 29349598
Variant Present in the following documents:
  • Main text
  • 10637_2018_562_MOESM2_ESM.xlsx, sheet 1
  • 10637_2018_Article_562.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: L536P
PubMed Link: 29234250
Variant Present in the following documents:
  • Main text
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Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.

Nature Communications
Adalsteinsson, Viktor A VA; Ha, Gavin G; Freeman, Samuel S SS; Choudhury, Atish D AD; Stover, Daniel G DG; Parsons, Heather A HA; Gydush, Gregory G; Reed, Sarah C SC; Rotem, Denisse D; Rhoades, Justin J; Loginov, Denis D; Livitz, Dimitri D; Rosebrock, Daniel D; Leshchiner, Ignaty I; Kim, Jaegil J; Stewart, Chip C; Rosenberg, Mara M; Francis, Joshua M JM; Zhang, Cheng-Zhong CZ; Cohen, Ofir O; Oh, Coyin C; Ding, Huiming H; Polak, Paz P; Lloyd, Max M; Mahmud, Sairah S; Helvie, Karla K; Merrill, Margaret S MS; Santiago, Rebecca A RA; O'Connor, Edward P EP; Jeong, Seong H SH; Leeson, Rachel R; Barry, Rachel M RM; Kramkowski, Joseph F JF; Zhang, Zhenwei Z; Polacek, Laura L; Lohr, Jens G JG; Schleicher, Molly M; Lipscomb, Emily E; Saltzman, Andrea A; Oliver, Nelly M NM; Marini, Lori L; Waks, Adrienne G AG; Harshman, Lauren C LC; Tolaney, Sara M SM; Van Allen, Eliezer M EM; Winer, Eric P EP; Lin, Nancy U NU; Nakabayashi, Mari M; Taplin, Mary-Ellen ME; Johannessen, Cory M CM; Garraway, Levi A LA; Golub, Todd R TR; Boehm, Jesse S JS; Wagle, Nikhil N; Getz, Gad G; Love, J Christopher JC; Meyerson, Matthew M
Publication Date: 2017-11-06

Variant appearance in text: ESR1: L536P
PubMed Link: 29109393
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_965.pdf
  • 41467_2017_965_MOESM7_ESM.xlsx, sheet 1
  • 41467_2017_965_MOESM7_ESM.xlsx, sheet 7
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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: L536P
PubMed Link: 28945887
Variant Present in the following documents:
  • mdx490.pdf
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Expression of β-globin by cancer cells promotes cell survival during blood-borne dissemination.

Nature Communications
Zheng, Yu Y; Miyamoto, David T DT; Wittner, Ben S BS; Sullivan, James P JP; Aceto, Nicola N; Jordan, Nicole Vincent NV; Yu, Min M; Karabacak, Nezihi Murat NM; Comaills, Valentine V; Morris, Robert R; Desai, Rushil R; Desai, Niyati N; Emmons, Erin E; Milner, John D JD; Lee, Richard J RJ; Wu, Chin-Lee CL; Sequist, Lecia V LV; Haas, Wilhelm W; Ting, David T DT; Toner, Mehmet M; Ramaswamy, Sridhar S; Maheswaran, Shyamala S; Haber, Daniel A DA
Publication Date: 2017-02-09

Variant appearance in text: ESR1: L536P
PubMed Link: 28181495
Variant Present in the following documents:
  • ncomms14344-s2.pdf
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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: L536P
PubMed Link: 27174596
Variant Present in the following documents:
  • Main text
  • ncomms11579-s2.xlsx, sheet 1
  • ncomms11579.pdf
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Estrogen receptor-alpha as a predictive biomarker in endometrioid endometrial cancer.

Gynecologic Oncology
Backes, Floor J FJ; Walker, Christopher J CJ; Goodfellow, Paul J PJ; Hade, Erinn M EM; Agarwal, Garima G; Mutch, David D; Cohn, David E DE; Suarez, Adrian A AA
Publication Date: 2016-05

Variant appearance in text: ESR1: L536P
PubMed Link: 26957478
Variant Present in the following documents:
  • Main text
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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: Leu536Pro
PubMed Link: 26052034
Variant Present in the following documents:
  • Main text
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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: Leu536Pro
PubMed Link: 25838462
Variant Present in the following documents:
  • Main text
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Cancer therapy. Ex vivo culture of circulating breast tumor cells for individualized testing of drug susceptibility.

Science (New York, N.Y.)
Yu, Min M; Bardia, Aditya A; Aceto, Nicola N; Bersani, Francesca F; Madden, Marissa W MW; Donaldson, Maria C MC; Desai, Rushil R; Zhu, Huili H; Comaills, Valentine V; Zheng, Zongli Z; Wittner, Ben S BS; Stojanov, Petar P; Brachtel, Elena E; Sgroi, Dennis D; Kapur, Ravi R; Shioda, Toshihiro T; Ting, David T DT; Ramaswamy, Sridhar S; Getz, Gad G; Iafrate, A John AJ; Benes, Cyril C; Toner, Mehmet M; Maheswaran, Shyamala S; Haber, Daniel A DA
Publication Date: 2014-07-11

Variant appearance in text: ESR1: L536P
PubMed Link: 25013076
Variant Present in the following documents:
  • Main text
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