ESR1 c.975G>T ;(p.P325=)

Variant ID: 6-152265522-G-T

NM_000125.3(ESR1):c.975G>T;(p.P325=)

This variant was identified in 38 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: N/A
PubMed Link: 36467812
Variant Present in the following documents:
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ESR1: P325P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: N/A
PubMed Link: 35768426
Variant Present in the following documents:
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Hormone and receptor activator of NF-κB (RANK) pathway gene expression in plasma and mammographic breast density in postmenopausal women.

Breast Cancer Research : Bcr
Mintz, Rachel R; Wang, Mei M; Xu, Shuai S; Colditz, Graham A GA; Markovic, Chris C; Toriola, Adetunji T AT
Publication Date: 2022-04-14

Variant appearance in text: ESR1: P325P
PubMed Link: 35422057
Variant Present in the following documents:
  • 13058_2022_Article_1522.pdf
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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: ESR1: P325P
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: N/A
PubMed Link: 35246724
Variant Present in the following documents:
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 34054912
Variant Present in the following documents:
View BVdb publication page



The variant T allele of PvuII in ESR1 gene is a prognostic marker in early breast cancer survival.

Scientific Reports
Houtsma, Danny D; de Groot, Stefanie S; Baak-Pablo, Renee R; Kranenbarg, Elma Meershoek-Klein EM; Seynaeve, Caroline M CM; van de Velde, Cornelis J H CJH; Böhringer, Stefan S; Kroep, Judith R JR; Guchelaar, Henk -Jan H-; Gelderblom, Hans H
Publication Date: 2021-02-05

Variant appearance in text: ESR1: P325P
PubMed Link: 33547330
Variant Present in the following documents:
  • 41598_2021_Article_82002.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: N/A
PubMed Link: 33478437
Variant Present in the following documents:
View BVdb publication page



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: N/A
PubMed Link: 33451133
Variant Present in the following documents:
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: N/A
PubMed Link: 32529721
Variant Present in the following documents:
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: N/A
PubMed Link: 32277576
Variant Present in the following documents:
View BVdb publication page



A Possible Link of Genetic Variations in ER/IGF1R Pathway and Risk of Melanoma.

International Journal Of Molecular Sciences
Yuan, Tze-An TA; Yourk, Vandy V; Farhat, Ali A; Guo, Katherine L KL; Garcia, Angela A; Meyskens, Frank L FL; Liu-Smith, Feng F
Publication Date: 2020-03-05

Variant appearance in text: N/A
PubMed Link: 32150843
Variant Present in the following documents:
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: N/A
PubMed Link: 30814510
Variant Present in the following documents:
View BVdb publication page



Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 30794603
Variant Present in the following documents:
View BVdb publication page



Genetic polymorphisms of estrogen receptor genes are associated with breast cancer susceptibility in Chinese women.

Cancer Cell International
Dai, Zhijun Z; Tian, Tian T; Wang, Meng M; Yang, Tielin T; Li, Hongtao H; Lin, Shuai S; Hao, Qian Q; Xu, Peng P; Deng, Yujiao Y; Zhou, Linghui L; Li, Na N; Diao, Yan Y
Publication Date: 2019

Variant appearance in text: ESR1: P325P
PubMed Link: 30636932
Variant Present in the following documents:
  • 12935_2019_Article_727.pdf
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: N/A
PubMed Link: 29974678
Variant Present in the following documents:
View BVdb publication page



Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Publication Date: 2018

Variant appearance in text: N/A
PubMed Link: 29649263
Variant Present in the following documents:
View BVdb publication page



Investigation of variants in estrogen receptor genes and perinatal depression.

Neuropsychiatric Disease And Treatment
Tan, Ene-Choo EC; Lim, Hwee-Woon HW; Chua, Tze-Ern TE; Tan, Hui-San HS; Lee, Theresa My TM; Chen, Helen Y HY
Publication Date: 2018

Variant appearance in text: N/A
PubMed Link: 29636617
Variant Present in the following documents:
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: N/A
PubMed Link: 29221171
Variant Present in the following documents:
View BVdb publication page



Molecular characterization of breast cancer CTCs associated with brain metastasis.

Nature Communications
Boral, Debasish D; Vishnoi, Monika M; Liu, Haowen N HN; Yin, Wei W; Sprouse, Marc L ML; Scamardo, Antonio A; Hong, David S DS; Tan, Tuan Z TZ; Thiery, Jean P JP; Chang, Jenny C JC; Marchetti, Dario D
Publication Date: 2017-08-04

Variant appearance in text: N/A
PubMed Link: 28775303
Variant Present in the following documents:
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: N/A
PubMed Link: 28499365
Variant Present in the following documents:
View BVdb publication page



Interactive role of diabetes mellitus and female sex in the risk of cholangiocarcinoma: A population-based nested case-control study.

Oncotarget
Huang, Yan-Jiun YJ; Wu, Alexander Th AT; Chiou, Hung-Yi HY; Chuang, Ming-Tsang MT; Meng, Tzu-Ching TC; Chien, Li-Nien LN; Yen, Yun Y
Publication Date: 2017-01-24

Variant appearance in text: N/A
PubMed Link: 28036262
Variant Present in the following documents:
View BVdb publication page



Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers.

Oncotarget
Rizzolo, Piera P; Navazio, Anna Sara AS; Silvestri, Valentina V; Valentini, Virginia V; Zelli, Veronica V; Zanna, Ines I; Masala, Giovanna G; Bianchi, Simonetta S; Scarnò, Marco M; Tommasi, Stefania S; Palli, Domenico D; Ottini, Laura L
Publication Date: 2016-11-08

Variant appearance in text: N/A
PubMed Link: 27765917
Variant Present in the following documents:
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: N/A
PubMed Link: 26549847
Variant Present in the following documents:
View BVdb publication page



Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: N/A
PubMed Link: 26496393
Variant Present in the following documents:
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: N/A
PubMed Link: 25944692
Variant Present in the following documents:
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: N/A
PubMed Link: 25496518
Variant Present in the following documents:
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: N/A
PubMed Link: 24219164
Variant Present in the following documents:
View BVdb publication page



Risk factors and control strategies for the rapidly rising rate of breast cancer in Korea.

Journal Of Breast Cancer
Park, Sue K SK; Kim, Yeonju Y; Kang, Daehee D; Jung, En-Joo EJ; Yoo, Keun-Young KY
Publication Date: 2011-06

Variant appearance in text: N/A
PubMed Link: 21847401
Variant Present in the following documents:
View BVdb publication page



Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

The Lancet. Oncology
Zhang, Ben B; Beeghly-Fadiel, Alicia A; Long, Jirong J; Zheng, Wei W
Publication Date: 2011-05

Variant appearance in text: N/A
PubMed Link: 21514219
Variant Present in the following documents:
View BVdb publication page



Novel pathway analysis of genomic polymorphism-cancer risk interaction in the Breast Cancer Prevention Trial.

International Journal Of Molecular Epidemiology And Genetics
Dunn, Barbara K BK; Greene, Mark H MH; Kelley, Jenny M JM; Costantino, Joseph P JP; Clifford, Robert J RJ; Hu, Ying Y; Tang, Gong G; Kazerouni, Neely N; Rosenberg, Philip S PS; Meerzaman, Daoud M DM; Buetow, Kenneth H KH
Publication Date: 2010

Variant appearance in text: N/A
PubMed Link: 21152245
Variant Present in the following documents:
View BVdb publication page



ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study.

Journal Of Lipid Research
Klos, Kathy L E KL; Boerwinkle, Eric E; Ferrell, Robert E RE; Turner, Stephen T ST; Morrison, Alanna C AC
Publication Date: 2008-08

Variant appearance in text: N/A
PubMed Link: 18450649
Variant Present in the following documents:
View BVdb publication page



Methodological issues in detecting gene-gene interactions in breast cancer susceptibility: a population-based study in Ontario.

Bmc Medicine
Briollais, Laurent L; Wang, Yuanyuan Y; Rajendram, Isaac I; Onay, Venus V; Shi, Ellen E; Knight, Julia J; Ozcelik, Hilmi H
Publication Date: 2007-08-07

Variant appearance in text: N/A
PubMed Link: 17683639
Variant Present in the following documents:
View BVdb publication page



Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease.

Bmc Cancer
Gallicchio, Lisa L; Berndt, Sonja I SI; McSorley, Meghan A MA; Newschaffer, Craig J CJ; Thuita, Lucy W LW; Argani, Pedram P; Hoffman, Sandra C SC; Helzlsouer, Kathy J KJ
Publication Date: 2006-06-29

Variant appearance in text: N/A
PubMed Link: 16808847
Variant Present in the following documents:
View BVdb publication page



SNP-SNP interactions in breast cancer susceptibility.

Bmc Cancer
Onay, Venüs Ummiye VU; Briollais, Laurent L; Knight, Julia A JA; Shi, Ellen E; Wang, Yuanyuan Y; Wells, Sean S; Li, Hong H; Rajendram, Isaac I; Andrulis, Irene L IL; Ozcelik, Hilmi H
Publication Date: 2006-05-03

Variant appearance in text: N/A
PubMed Link: 16672066
Variant Present in the following documents:
View BVdb publication page