ESR1 c.1285C>G ;(p.L429V)

Variant ID: 6-152382175-C-G

NM_000125.3(ESR1):c.1285C>G;(p.L429V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: ESR1: L429V
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 3
View BVdb publication page



Genomic profiling of ER+ breast cancers after short-term estrogen suppression reveals alterations associated with endocrine resistance.

Science Translational Medicine
Giltnane, Jennifer M JM; Hutchinson, Katherine E KE; Stricker, Thomas P TP; Formisano, Luigi L; Young, Christian D CD; Estrada, Monica V MV; Nixon, Mellissa J MJ; Du, Liping L; Sanchez, Violeta V; Ericsson, Paula Gonzalez PG; Kuba, Maria G MG; Sanders, Melinda E ME; Mu, Xinmeng J XJ; Van Allen, Eliezer M EM; Wagle, Nikhil N; Mayer, Ingrid A IA; Abramson, Vandana V; Gόmez, Henry H; Rizzo, Monica M; Toy, Weiyi W; Chandarlapaty, Sarat S; Mayer, Erica L EL; Christiansen, Jason J; Murphy, Danielle D; Fitzgerald, Kerry K; Wang, Kai K; Ross, Jeffrey S JS; Miller, Vincent A VA; Stephens, Phillip J PJ; Yelensky, Roman R; Garraway, Levi L; Shyr, Yu Y; Meszoely, Ingrid I; Balko, Justin M JM; Arteaga, Carlos L CL
Publication Date: 2017-08-09

Variant appearance in text: ESR1: L429V
PubMed Link: 28794284
Variant Present in the following documents:
  • Main text
View BVdb publication page