IDH1 c.211G>A ;(p.V71I)

Variant ID: 2-209113296-C-T

NM_005896.2(IDH1):c.211G>A;(p.V71I)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


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: IDH1: 211G>A; V71I; rs73070954
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: IDH1: V71I
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: IDH1: V71I
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: IDH1: 211G>A
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page



Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Jia, Liwei L; Carlo, Maria I MI; Khan, Hina H; Nanjangud, Gouri J GJ; Rana, Satshil S; Cimera, Robert R; Zhang, Yanming Y; Hakimi, A Ari AA; Verma, Amit K AK; Al-Ahmadie, Hikmat A HA; Fine, Samson W SW; Gopalan, Anuradha A; Sirintrapun, S Joseph SJ; Tickoo, Satish K SK; Reuter, Victor E VE; Gartrell, Benjamin A BA; Chen, Ying-Bei YB
Publication Date: 2019-09

Variant appearance in text: IDH1: V71I
PubMed Link: 30980040
Variant Present in the following documents:
  • NIHMS1523944-supplement-1.xlsx, sheet 1
View BVdb publication page



Prevalence of the single-nucleotide polymorphism rs11554137 (IDH1105GGT) in brain tumors of a cohort of Italian patients.

Scientific Reports
Acquaviva, Giorgia G; Visani, Michela M; de Biase, Dario D; Marucci, Gianluca G; Franceschi, Enrico E; Tosoni, Alicia A; Brandes, Alba A AA; Rhoden, Kerry J KJ; Pession, Annalisa A; Tallini, Giovanni G
Publication Date: 2018-03-13

Variant appearance in text: IDH1: V71I
PubMed Link: 29535392
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_22222.pdf
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: IDH1: V71I
PubMed Link: 29263839
Variant Present in the following documents:
  • Main text
  • 41525_2017_Article_32.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: IDH1: 211G>A; V71I; rs73070954
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell
Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H
Publication Date: 2018-02

Variant appearance in text: IDH1: Val71Ile
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_451.pdf
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: IDH1: V71I; rs73070954
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: IDH1: V71I; rs73070954
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Targeting leukemia stem cells in vivo with antagomiR-126 nanoparticles in acute myeloid leukemia.

Leukemia
Dorrance, A M AM; Neviani, P P; Ferenchak, G J GJ; Huang, X X; Nicolet, D D; Maharry, K S KS; Ozer, H G HG; Hoellarbauer, P P; Khalife, J J; Hill, E B EB; Yadav, M M; Bolon, B N BN; Lee, R J RJ; Lee, L J LJ; Croce, C M CM; Garzon, R R; Caligiuri, M A MA; Bloomfield, C D CD; Marcucci, G G
Publication Date: 2015-11

Variant appearance in text: IDH1: V71i
PubMed Link: 26055302
Variant Present in the following documents:
  • NIHMS688541-supplement-1.pdf
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: IDH1: 211G>A; V71I; rs73070954
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: IDH1: V71I; rs73070954
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



IDH1/2 mutations target a key hallmark of cancer by deregulating cellular metabolism in glioma.

Neuro-Oncology
Zhang, Chunzhi C; Moore, Lynette M LM; Li, Xia X; Yung, W K Alfred WK; Zhang, Wei W
Publication Date: 2013-09

Variant appearance in text: IDH1: V71I
PubMed Link: 23877318
Variant Present in the following documents:
  • Main text
View BVdb publication page



IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Yang, Hui H; Ye, Dan D; Guan, Kun-Liang KL; Xiong, Yue Y
Publication Date: 2012-10-15

Variant appearance in text: IDH1: V71I
PubMed Link: 23071358
Variant Present in the following documents:
  • Main text
View BVdb publication page



miR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemia.

Blood
Eisfeld, Ann-Kathrin AK; Marcucci, Guido G; Maharry, Kati K; Schwind, Sebastian S; Radmacher, Michael D MD; Nicolet, Deedra D; Becker, Heiko H; Mrózek, Krzysztof K; Whitman, Susan P SP; Metzeler, Klaus H KH; Mendler, Jason H JH; Wu, Yue-Zhong YZ; Liyanarachchi, Sandya S; Patel, Ravi R; Baer, Maria R MR; Powell, Bayard L BL; Carter, Thomas H TH; Moore, Joseph O JO; Kolitz, Jonathan E JE; Wetzler, Meir M; Caligiuri, Michael A MA; Larson, Richard A RA; Tanner, Stephan M SM; de la Chapelle, Albert A; Bloomfield, Clara D CD
Publication Date: 2012-07-12

Variant appearance in text: IDH1: V71I
PubMed Link: 22529287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cancer-associated isocitrate dehydrogenase mutations inactivate NADPH-dependent reductive carboxylation.

The Journal Of Biological Chemistry
Leonardi, Roberta R; Subramanian, Chitra C; Jackowski, Suzanne S; Rock, Charles O CO
Publication Date: 2012-04-27

Variant appearance in text: IDH1: V71I
PubMed Link: 22442146
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of additional IDH mutations associated with oncometabolite R(-)-2-hydroxyglutarate production.

Oncogene
Ward, P S PS; Cross, J R JR; Lu, C C; Weigert, O O; Abel-Wahab, O O; Levine, R L RL; Weinstock, D M DM; Sharp, K A KA; Thompson, C B CB
Publication Date: 2012-05-10

Variant appearance in text: IDH1: V71I
PubMed Link: 21996744
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: IDH1: V71I
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



IDH1 and IDH2 mutations in pediatric acute leukemia.

Leukemia
Andersson, A K AK; Miller, D W DW; Lynch, J A JA; Lemoff, A S AS; Cai, Z Z; Pounds, S B SB; Radtke, I I; Yan, B B; Schuetz, J D JD; Rubnitz, J E JE; Ribeiro, R C RC; Raimondi, S C SC; Zhang, J J; Mullighan, C G CG; Shurtleff, S A SA; Schulman, B A BA; Downing, J R JR
Publication Date: 2011-10

Variant appearance in text: IDH1: V71I
PubMed Link: 21647154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study.

Leukemia
Ho, P A PA; Alonzo, T A TA; Kopecky, K J KJ; Miller, K L KL; Kuhn, J J; Zeng, R R; Gerbing, R B RB; Raimondi, S C SC; Hirsch, B A BA; Oehler, V V; Hurwitz, C A CA; Franklin, J L JL; Gamis, A S AS; Petersdorf, S H SH; Anderson, J E JE; Reaman, G H GH; Baker, L H LH; Willman, C L CL; Bernstein, I D ID; Radich, J P JP; Appelbaum, F R FR; Stirewalt, D L DL; Meshinchi, S S
Publication Date: 2010-05

Variant appearance in text: IDH1: V71I
PubMed Link: 20376086
Variant Present in the following documents:
  • Main text
  • nihms184578.pdf
View BVdb publication page



IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Marcucci, Guido G; Maharry, Kati K; Wu, Yue-Zhong YZ; Radmacher, Michael D MD; Mrózek, Krzysztof K; Margeson, Dean D; Holland, Kelsi B KB; Whitman, Susan P SP; Becker, Heiko H; Schwind, Sebastian S; Metzeler, Klaus H KH; Powell, Bayard L BL; Carter, Thomas H TH; Kolitz, Jonathan E JE; Wetzler, Meir M; Carroll, Andrew J AJ; Baer, Maria R MR; Caligiuri, Michael A MA; Larson, Richard A RA; Bloomfield, Clara D CD
Publication Date: 2010-05-10

Variant appearance in text: IDH1: 211G>A; V71I
PubMed Link: 20368543
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer.

Biochemical And Biophysical Research Communications
Murugan, Avaniyapuram Kannan AK; Bojdani, Ermal E; Xing, Mingzhao M
Publication Date: 2010-03-12

Variant appearance in text: IDH1: V71I
PubMed Link: 20171178
Variant Present in the following documents:
  • Main text
View BVdb publication page