ESR1 c.644-1661T>C

Variant ID: 6-152200129-T-C

NM_000125.3(ESR1):c.644-1661T>C

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs9322335
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs9322335
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility.

Scientific Reports
Tan, Shing Cheng SC; Low, Teck Yew TY; Mohamad Hanif, Ezanee Azlina EA; Sharzehan, Mohamad Ayub Khan MAK; Kord-Varkaneh, Hamed H; Islam, Md Asiful MA
Publication Date: 2021-09-20

Variant appearance in text: rs9322335
PubMed Link: 34545128
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_97935.pdf
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A New Insight for the Identification of Oncogenic Variants in Breast and Prostate Cancers in Diverse Human Populations, With a Focus on Latinos.

Frontiers In Pharmacology
Varela, Nelson M NM; Guevara-Ramírez, Patricia P; Acevedo, Cristian C; Zambrano, Tomás T; Armendáriz-Castillo, Isaac I; Guerrero, Santiago S; Quiñones, Luis A LA; López-Cortés, Andrés A
Publication Date: 2021

Variant appearance in text: rs9322335
PubMed Link: 33912047
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area.

Journal Of Clinical Medicine
Tafazoli, Alireza A; Wawrusiewicz-Kurylonek, Natalia N; Posmyk, Renata R; Miltyk, Wojciech W
Publication Date: 2020-12-24

Variant appearance in text: rs9322335
PubMed Link: 33374421
Variant Present in the following documents:
  • Main text
  • jcm-10-00034.pdf
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An exploratory analysis on the influence of genetic variants on weight gain among etonogestrel contraceptive implant users.

Contraception
Lazorwitz, Aaron A; Dindinger, Eva E; Harrison, Margaret M; Aquilante, Christina L CL; Sheeder, Jeanelle J; Teal, Stephanie S
Publication Date: 2020-09

Variant appearance in text: rs9322335
PubMed Link: 32407811
Variant Present in the following documents:
  • Main text
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Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstetrics And Gynecology
Lazorwitz, Aaron A; Aquilante, Christina L CL; Oreschak, Kris K; Sheeder, Jeanelle J; Guiahi, Maryam M; Teal, Stephanie S
Publication Date: 2019-04

Variant appearance in text: rs9322335
PubMed Link: 30870275
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline genetic predictors of aromatase inhibitor concentrations, estrogen suppression and drug efficacy and toxicity in breast cancer patients.

Pharmacogenomics
Hertz, Daniel L DL; Henry, N Lynn NL; Rae, James M JM
Publication Date: 2017-04

Variant appearance in text: rs9322335
PubMed Link: 28346074
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in the estrogen receptor alpha gene (ESR1), daily cycling estrogen and mammographic density phenotypes.

Bmc Cancer
Fjeldheim, F N FN; Frydenberg, H H; Flote, V G VG; McTiernan, A A; Furberg, A-S AS; Ellison, P T PT; Barrett, E S ES; Wilsgaard, T T; Jasienska, G G; Ursin, G G; Wist, E A EA; Thune, I I
Publication Date: 2016-10-07

Variant appearance in text: rs9322335
PubMed Link: 27717337
Variant Present in the following documents:
  • Main text
  • 12885_2016_Article_2804.pdf
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ESR1 and PGR polymorphisms are associated with estrogen and progesterone receptor expression in breast tumors.

Physiological Genomics
Hertz, Daniel L DL; Henry, N Lynn NL; Kidwell, Kelley M KM; Thomas, Dafydd D; Goddard, Audrey A; Azzouz, Faouzi F; Speth, Kelly K; Li, Lang L; Banerjee, Mousumi M; Thibert, Jacklyn N JN; Kleer, Celina G CG; Stearns, Vered V; Hayes, Daniel F DF; Skaar, Todd C TC; Rae, James M JM
Publication Date: 2016-09-01

Variant appearance in text: rs9322335
PubMed Link: 27542969
Variant Present in the following documents:
  • Main text
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Associations between genetic variants and the effect of letrozole and exemestane on bone mass and bone turnover.

Breast Cancer Research And Treatment
Oesterreich, Steffi S; Henry, N Lynn NL; Kidwell, Kelley M KM; Van Poznak, Catherine H CH; Skaar, Todd C TC; Dantzer, Jessica J; Li, Lang L; Hangartner, Thomas N TN; Peacock, Munro M; Nguyen, Anne T AT; Rae, James M JM; Desta, Zeruesenay Z; Philips, Santosh S; Storniolo, Anna M AM; Stearns, Vered V; Hayes, Daniel F DF; Flockhart, David A DA
Publication Date: 2015-11

Variant appearance in text: rs9322335
PubMed Link: 26536870
Variant Present in the following documents:
  • Main text
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Estrogen receptor α variants affect age at onset of Alzheimer's disease in a multiethnic female cohort.

Dementia And Geriatric Cognitive Disorders
Janicki, S C SC; Park, N N; Cheng, R R; Clark, L N LN; Lee, J H JH; Schupf, N N
Publication Date: 2014

Variant appearance in text: rs9322335
PubMed Link: 24732579
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample.

Plos One
Obeidat, Ma'en M; Wain, Louise V LV; Shrine, Nick N; Kalsheker, Noor N; Soler Artigas, Maria M; Repapi, Emmanouela E; Burton, Paul R PR; Johnson, Toby T; Ramasamy, Adaikalavan A; Zhao, Jing Hua JH; Zhai, Guangju G; Huffman, Jennifer E JE; Vitart, Veronique V; Albrecht, Eva E; Igl, Wilmar W; Hartikainen, Anna-Liisa AL; Pouta, Anneli A; Cadby, Gemma G; Hui, Jennie J; Palmer, Lyle J LJ; Hadley, David D; McArdle, Wendy L WL; Rudnicka, Alicja R AR; Barroso, Inês I; Loos, Ruth J F RJ; Wareham, Nicholas J NJ; Mangino, Massimo M; Soranzo, Nicole N; Spector, Tim D TD; Gläser, Sven S; Homuth, Georg G; Völzke, Henry H; Deloukas, Panos P; Granell, Raquel R; Henderson, John J; Grkovic, Ivica I; Jankovic, Stipan S; Zgaga, Lina L; Polašek, Ozren O; Rudan, Igor I; Wright, Alan F AF; Campbell, Harry H; Wild, Sarah H SH; Wilson, James F JF; Heinrich, Joachim J; Imboden, Medea M; Probst-Hensch, Nicole M NM; Gyllensten, Ulf U; Johansson, Åsa Å; Zaboli, Ghazal G; Mustelin, Linda L; Rantanen, Taina T; Surakka, Ida I; Kaprio, Jaakko J; Jarvelin, Marjo-Riitta MR; Hayward, Caroline C; Evans, David M DM; Koch, Beate B; Musk, Arthur William AW; Elliott, Paul P; Strachan, David P DP; Tobin, Martin D MD; Sayers, Ian I; Hall, Ian P IP; ,
Publication Date: 2011

Variant appearance in text: rs9322335
PubMed Link: 21625484
Variant Present in the following documents:
  • Main text
  • pone.0019382.pdf
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Variants in estrogen-related genes and risk of Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Chung, Sun Ju SJ; Armasu, Sebastian M SM; Biernacka, Joanna M JM; Lesnick, Timothy G TG; Rider, David N DN; Cunningham, Julie M JM; Maraganore, Demetrius M DM
Publication Date: 2011-06

Variant appearance in text: rs9322335
PubMed Link: 21469201
Variant Present in the following documents:
  • Main text
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Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.

Plos One
Dahlgren, Andreas A; Lundmark, Per P; Axelsson, Tomas T; Lind, Lars L; Syvänen, Ann-Christine AC
Publication Date: 2008-03-19

Variant appearance in text: rs9322335
PubMed Link: 18350145
Variant Present in the following documents:
  • Main text
  • pone.0001807.pdf
View BVdb publication page