ESR1 c.644-1360C>T

Variant ID: 6-152200430-C-T

NM_000125.3(ESR1):c.644-1360C>T

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: rs9322336
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.

Pharmacogenomics And Personalized Medicine
Nthontho, Keneuoe Cecilia KC; Ndlovu, Andrew Khulekani AK; Sharma, Kirthana K; Kasvosve, Ishmael I; Hertz, Daniel Louis DL; Paganotti, Giacomo Maria GM
Publication Date: 2022

Variant appearance in text: rs9322336
PubMed Link: 35761855
Variant Present in the following documents:
  • Main text
  • pgpm-15-613.pdf
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Aromatase Inhibitor-Associated Musculoskeletal Syndrome: Understanding Mechanisms and Management.

Frontiers In Endocrinology
Hyder, Tara T; Marino, Christopher C CC; Ahmad, Sasha S; Nasrazadani, Azadeh A; Brufsky, Adam M AM
Publication Date: 2021

Variant appearance in text: rs9322336
PubMed Link: 34385978
Variant Present in the following documents:
  • Main text
  • fendo-12-713700.pdf
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Further Evidence That OPG rs2073618 Is Associated With Increased Risk of Musculoskeletal Symptoms in Patients Receiving Aromatase Inhibitors for Early Breast Cancer.

Frontiers In Genetics
Hertz, Daniel L DL; Smith, Karen Lisa KL; Zong, Yuhua Y; Gersch, Christina L CL; Pesch, Andrea M AM; Lehman, Jennifer J; Blackford, Amanda L AL; Henry, N Lynn NL; Kidwell, Kelley M KM; Rae, James M JM; Stearns, Vered V
Publication Date: 2021

Variant appearance in text: rs9322336
PubMed Link: 34211496
Variant Present in the following documents:
  • Main text
  • fgene-12-662734.pdf
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Aromatase and CDK4/6 Inhibitor-Induced Musculoskeletal Symptoms: A Systematic Review.

Cancers
Andrikopoulou, Angeliki A; Fiste, Oraianthi O; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2021-01-26

Variant appearance in text: rs9322336
PubMed Link: 33530456
Variant Present in the following documents:
  • Main text
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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: rs9322336
PubMed Link: 33451133
Variant Present in the following documents:
  • Main text
  • ijms-22-00756.pdf
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Aromatase Inhibitors-Induced Musculoskeletal Disorders: Current Knowledge on Clinical and Molecular Aspects.

International Journal Of Molecular Sciences
Tenti, Sara S; Correale, Pierpaolo P; Cheleschi, Sara S; Fioravanti, Antonella A; Pirtoli, Luigi L
Publication Date: 2020-08-06

Variant appearance in text: rs9322336
PubMed Link: 32781535
Variant Present in the following documents:
  • Main text
  • ijms-21-05625.pdf
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Genetic Underpinnings of Musculoskeletal Pain During Treatment With Aromatase Inhibitors for Breast Cancer: A Biological Pathway Analysis.

Biological Research For Nursing
Zhu, Yehui Y; Koleck, Theresa A TA; Bender, Catherine M CM; Conley, Yvette P YP
Publication Date: 2020-04

Variant appearance in text: rs9322336
PubMed Link: 31847542
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: rs9322336
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: rs9322336
PubMed Link: 28346074
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs9322336
PubMed Link: 27542969
Variant Present in the following documents:
  • Main text
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Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations.

Journal Of Translational Medicine
Cocca, Massimiliano M; Bedognetti, Davide D; La Bianca, Martina M; Gasparini, Paolo P; Girotto, Giorgia G
Publication Date: 2016-01-22

Variant appearance in text: rs9322336
PubMed Link: 26801900
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_778.pdf
  • 12967_2016_778_MOESM3_ESM.xls, sheet 1
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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: rs9322336
PubMed Link: 26536870
Variant Present in the following documents:
  • Main text
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Bivariate Genome-Wide Association Study Implicates ATP6V1G1 as a Novel Pleiotropic Locus Underlying Osteoporosis and Age at Menarche.

The Journal Of Clinical Endocrinology And Metabolism
Tan, Li-Jun LJ; Wang, Zhuo-Er ZE; Wu, Ke-Hao KH; Chen, Xiang-Ding XD; Zhu, Hu H; Lu, Shan S; Tian, Qing Q; Liu, Xiao-Gang XG; Papasian, Christopher J CJ; Deng, Hong-Wen HW
Publication Date: 2015-11

Variant appearance in text: rs9322336
PubMed Link: 26312577
Variant Present in the following documents:
  • Main text
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Genetic associations with toxicity-related discontinuation of aromatase inhibitor therapy for breast cancer.

Breast Cancer Research And Treatment
Henry, N Lynn NL; Skaar, Todd C TC; Dantzer, Jessica J; Li, Lang L; Kidwell, Kelley K; Gersch, Christina C; Nguyen, Anne T AT; Rae, James M JM; Desta, Zeruesenay Z; Oesterreich, Steffi S; Philips, Santosh S; Carpenter, Janet S JS; Storniolo, Anna M AM; Stearns, Vered V; Hayes, Daniel F DF; Flockhart, David A DA
Publication Date: 2013-04

Variant appearance in text: rs9322336
PubMed Link: 23546553
Variant Present in the following documents:
  • Main text
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TRM: a powerful two-stage machine learning approach for identifying SNP-SNP interactions.

Annals Of Human Genetics
Lin, Hui-Yi HY; Chen, Y Ann YA; Tsai, Ya-Yu YY; Qu, Xiaotao X; Tseng, Tung-Sung TS; Park, Jong Y JY
Publication Date: 2012-01

Variant appearance in text: rs9322336
PubMed Link: 22150548
Variant Present in the following documents:
  • Main text
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Meta-analysis of genome-wide association for migraine in six population-based European cohorts.

European Journal Of Human Genetics : Ejhg
Ligthart, Lannie L; de Vries, Boukje B; Smith, Albert V AV; Ikram, M Arfan MA; Amin, Najaf N; Hottenga, Jouke-Jan JJ; Koelewijn, Stephany C SC; Kattenberg, V Mathijs VM; de Moor, Marleen H M MH; Janssens, A Cecile J W AC; Aulchenko, Yurii S YS; Oostra, Ben A BA; de Geus, Eco J C EJ; Smit, Johannes H JH; Zitman, Frans G FG; Uitterlinden, André G AG; Hofman, Albert A; Willemsen, Gonneke G; Nyholt, Dale R DR; Montgomery, Grant W GW; Terwindt, Gisela M GM; Gudnason, Vilmundur V; Penninx, Brenda W J H BW; Breteler, Monique M; Ferrari, Michel D MD; Launer, Lenore J LJ; van Duijn, Cornelia M CM; van den Maagdenberg, Arn M J M AM; Boomsma, Dorret I DI
Publication Date: 2011-08

Variant appearance in text: rs9322336
PubMed Link: 21448238
Variant Present in the following documents:
  • Main text
  • ejhg201148a.pdf
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Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Ichikawa, Shoji S; Koller, Daniel L DL; Padgett, Leah R LR; Lai, Dongbing D; Hui, Siu L SL; Peacock, Munro M; Foroud, Tatiana T; Econs, Michael J MJ
Publication Date: 2010-08

Variant appearance in text: rs9322336
PubMed Link: 20200978
Variant Present in the following documents:
  • Main text
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Association between common germline genetic variation in 94 candidate genes or regions and risks of invasive epithelial ovarian cancer.

Plos One
Quaye, Lydia L; Tyrer, Jonathan J; Ramus, Susan J SJ; Song, Honglin H; Wozniak, Eva E; DiCioccio, Richard A RA; McGuire, Valerie V; Høgdall, Estrid E; Høgdall, Claus C; Blaakaer, Jan J; Goode, Ellen L EL; Schildkraut, Joellen M JM; Easton, Douglas F DF; Krüger-Kjaer, Susanne S; Whittemore, Alice S AS; Gayther, Simon A SA; Pharoah, Paul D P PD
Publication Date: 2009-06-19

Variant appearance in text: rs9322336
PubMed Link: 19543528
Variant Present in the following documents:
  • Main text
  • pone.0005983.pdf
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