GATA3 c.924+2491T>C

Variant ID: 10-8108592-T-C

NM_001002295.1(GATA3):c.924+2491T>C

This variant was identified in 9 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: GATA3: 924+2491T>C; rs569421
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.

Nature Communications
Eriksson, Daniel D; Røyrvik, Ellen Christine EC; Aranda-Guillén, Maribel M; Berger, Amund Holte AH; Landegren, Nils N; Artaza, Haydee H; Hallgren, Åsa Å; Grytaas, Marianne Aardal MA; Ström, Sara S; Bratland, Eirik E; Botusan, Ileana Ruxandra IR; Oftedal, Bergithe Eikeland BE; Breivik, Lars L; Vaudel, Marc M; Helgeland, Øyvind Ø; Falorni, Alberto A; Jørgensen, Anders Palmstrøm AP; Hulting, Anna-Lena AL; Svartberg, Johan J; Ekwall, Olov O; Fougner, Kristian Johan KJ; Wahlberg, Jeanette J; Nedrebø, Bjørn Gunnar BG; Dahlqvist, Per P; , ; , ; Knappskog, Per Morten PM; Wolff, Anette Susanne Bøe ASB; Bensing, Sophie S; Johansson, Stefan S; Kämpe, Olle O; Husebye, Eystein Sverre ES
Publication Date: 2021-02-11

Variant appearance in text: rs569421
PubMed Link: 33574239
Variant Present in the following documents:
  • 41467_2021_21015_MOESM1_ESM.pdf
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: GATA3: 924+2491T>C
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.

Scientific Reports
Eriksson, Daniel D; Bianchi, Matteo M; Landegren, Nils N; Dalin, Frida F; Skov, Jakob J; Hultin-Rosenberg, Lina L; Mathioudaki, Argyri A; Nordin, Jessika J; Hallgren, Åsa Å; Andersson, Göran G; Tandre, Karolina K; Rantapää Dahlqvist, Solbritt S; Söderkvist, Peter P; Rönnblom, Lars L; Hulting, Anna-Lena AL; Wahlberg, Jeanette J; Dahlqvist, Per P; Ekwall, Olov O; Meadows, Jennifer R S JRS; Lindblad-Toh, Kerstin K; Bensing, Sophie S; Rosengren Pielberg, Gerli G; Kämpe, Olle O
Publication Date: 2018-05-30

Variant appearance in text: rs569421
PubMed Link: 29849176
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_26842.pdf
View BVdb publication page



Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex.

Blood Advances
Clay-Gilmour, Alyssa I AI; Hahn, Theresa T; Preus, Leah M LM; Onel, Kenan K; Skol, Andrew A; Hungate, Eric E; Zhu, Qianqian Q; Haiman, Christopher A CA; Stram, Daniel O DO; Pooler, Loreall L; Sheng, Xin X; Yan, Li L; Liu, Qian Q; Hu, Qiang Q; Liu, Song S; Battaglia, Sebastiano S; Zhu, Xiaochun X; Block, AnneMarie W AW; Sait, Sheila N J SNJ; Karaesmen, Ezgi E; Rizvi, Abbas A; Weisdorf, Daniel J DJ; Ambrosone, Christine B CB; Tritchler, David D; Ellinghaus, Eva E; Ellinghaus, David D; Stanulla, Martin M; Clavel, Jacqueline J; Orsi, Laurent L; Spellman, Stephen S; Pasquini, Marcelo C MC; McCarthy, Philip L PL; Sucheston-Campbell, Lara E LE
Publication Date: 2017-09-12

Variant appearance in text: rs569421
PubMed Link: 29296818
Variant Present in the following documents:
  • Main text
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: rs569421
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts.

Plos One
Mitchell, Anna L AL; Macarthur, Katie D R KD; Gan, Earn H EH; Baggott, Lucy E LE; Wolff, Anette S B AS; Skinningsrud, Beate B; Platt, Hazel H; Short, Andrea A; Lobell, Anna A; Kämpe, Olle O; Bensing, Sophie S; Betterle, Corrado C; Kasperlik-Zaluska, Anna A; Zurawek, Magdalena M; Fichna, Marta M; Kockum, Ingrid I; Nordling Eriksson, Gabriel G; Ekwall, Olov O; Wahlberg, Jeanette J; Dahlqvist, Per P; Hulting, Anna-Lena AL; Penna-Martinez, Marissa M; Meyer, Gesine G; Kahles, Heinrich H; Badenhoop, Klaus K; Hahner, Stephanie S; Quinkler, Marcus M; Falorni, Alberto A; Phipps-Green, Amanda A; Merriman, Tony R TR; Ollier, William W; Cordell, Heather J HJ; Undlien, Dag D; Czarnocka, Barbara B; Husebye, Eystein E; Pearce, Simon H S SH
Publication Date: 2014

Variant appearance in text: rs569421
PubMed Link: 24614117
Variant Present in the following documents:
  • Main text
  • pone.0088991.pdf
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Distinct cancer-specific survival in metastatic prostate cancer patients classified by a panel of single nucleotide polymorphisms of cancer-associated genes.

Genes & Cancer
Tsuchiya, Norihiko N; Matsui, Shigeyuki S; Narita, Shintaro S; Kamba, Tomomi T; Mitsuzuka, Koji K; Hatakeyama, Shingo S; Horikawa, Yohei Y; Inoue, Takamitsu T; Saito, Seiichi S; Ohyama, Chikara C; Arai, Yoich Y; Ogawa, Osamu O; Habuchi, Tomonori T
Publication Date: 2013-01

Variant appearance in text: rs569421
PubMed Link: 23946871
Variant Present in the following documents:
  • Main text
View BVdb publication page



HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer.

Plos One
Andrew, Angeline S AS; Hu, Ting T; Gu, Jian J; Gui, Jiang J; Ye, Yuanqing Y; Marsit, Carmen J CJ; Kelsey, Karl T KT; Schned, Alan R AR; Tanyos, Sam A SA; Pendleton, Eben M EM; Mason, Rebecca A RA; Morlock, Elaine V EV; Zens, Michael S MS; Li, Zhongze Z; Moore, Jason H JH; Wu, Xifeng X; Karagas, Margaret R MR
Publication Date: 2012

Variant appearance in text: rs569421
PubMed Link: 23284679
Variant Present in the following documents:
  • Main text
  • pone.0051301.pdf
View BVdb publication page