IDH1 c.299G>A ;(p.R100Q)

Variant ID: 2-209113208-C-T

NM_005896.2(IDH1):c.299G>A;(p.R100Q)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Rational Computational Approaches in Drug Discovery: Potential Inhibitors for Allosteric Regulation of Mutant Isocitrate Dehydrogenase-1 Enzyme in Cancers.

Molecules (Basel, Switzerland)
Thamim, Masthan M; Agrahari, Ashish Kumar AK; Gupta, Pawan P; Thirumoorthy, Krishnan K
Publication Date: 2023-03-02

Variant appearance in text: IDH1: R100Q
PubMed Link: 36903561
Variant Present in the following documents:
  • Main text
  • molecules-28-02315.pdf
View BVdb publication page



Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics.

Molecular Diagnosis & Therapy
Śledzińska, Paulina P; Bebyn, Marek M; Szczerba, Ewelina E; Furtak, Jacek J; Harat, Maciej M; Olszewska, Natalia N; Kamińska, Katarzyna K; Kowalewski, Janusz J; Lewandowska, Marzena A MA
Publication Date: 2022-11

Variant appearance in text: IDH1: 299G>A
PubMed Link: 36053463
Variant Present in the following documents:
  • Main text
  • 40291_2022_Article_612.pdf
View BVdb publication page



Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Journal Of Personalized Medicine
Scheiter, Alexander A; Hierl, Frederik F; Winkel, Ingrid I; Keil, Felix F; Klier-Richter, Margit M; Coulouarn, Cédric C; Lüke, Florian F; Kandulski, Arne A; Evert, Matthias M; Dietmaier, Wolfgang W; Calvisi, Diego F DF; Utpatel, Kirsten K
Publication Date: 2022-08-01

Variant appearance in text: IDH1: R100Q
PubMed Link: 36013219
Variant Present in the following documents:
  • jpm-12-01270.pdf
View BVdb publication page



Molecular and clinical characteristics of IDH mutations in Chinese NSCLC patients and potential treatment strategies.

Cancer Medicine
Chen, Shuchen S; Zhu, Honglin H; Jin, Meizi M; Yuan, Hongling H; Liu, Zhenzhen Z; Li, Jielin J; Zhang, Xiang X; Meng, Lihui L; Li, Ting T; Diao, Yuzhu Y; Gao, Hong H; Hong, Chengyu C; Zhu, Xinjiang X; Zheng, Jian J; Li, Fei F; Niu, Yanling Y; Ma, Tonghui T; Li, Xiaoling X
Publication Date: 2022-11

Variant appearance in text: IDH1: R100Q
PubMed Link: 35526267
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics
Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R
Publication Date: 2022-04-25

Variant appearance in text: IDH1: 299G>A
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid.

Hgg Advances
Blackburn, Patrick R PR; Carter, Jodi M JM; Oglesbee, Devin D; Westendorf, Jennifer J JJ; Neff, Brian A BA; Stichel, Damian D; Tsen, David W DW; Gavrilova, Ralitza H RH; Wesseling, Pieter P; von Deimling, Andreas A; Caulfield, Thomas R TR; Klee, Eric W EW; Pusch, Stefan S; Inwards, Carrie Y CY
Publication Date: 2020-10-22

Variant appearance in text: IDH1: 299G>A; R100Q
PubMed Link: 35047830
Variant Present in the following documents:
  • Main text
  • mmc4.pdf
  • mmc1.pdf
  • mmc2.xlsx, sheet 1
  • main.pdf
View BVdb publication page



Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.

Cancer Discovery
Ganz, Javier J; Maury, Eduardo A EA; Becerra, Basheer B; Bizzotto, Sara S; Doan, Ryan N RN; Kenny, Connor J CJ; Shin, Taehwan T; Kim, Junho J; Zhou, Zinan Z; Ligon, Keith L KL; Lee, Eunjung Alice EA; Walsh, Christopher A CA
Publication Date: 2022-01

Variant appearance in text: IDH1: R100Q
PubMed Link: 34389641
Variant Present in the following documents:
  • Main text
  • 172.pdf
View BVdb publication page



Rates and patterns of clonal oncogenic mutations in the normal human brain.

Cancer Discovery
Ganz, Javier J; Maury, Eduardo A EA; Becerra, Basheer B; Bizzotto, Sara S; Doan, Ryan N RN; Kenny, Connor J CJ; Shin, Taehwan T; Kim, Junho J; Zhou, Zinan Z; Ligon, Keith L KL; Lee, Eunjung Alice EA; Walsh, Christopher A CA
Publication Date: 2021-08-13

Variant appearance in text: IDH1: R100Q
PubMed Link: 34389641
Variant Present in the following documents:
  • Main text
  • 172.pdf
View BVdb publication page



Targeting Immunometabolism in Glioblastoma.

Frontiers In Oncology
Mohan, Aditya A AA; Tomaszewski, William H WH; Haskell-Mendoza, Aden P AP; Hotchkiss, Kelly M KM; Singh, Kirit K; Reedy, Jessica L JL; Fecci, Peter E PE; Sampson, John H JH; Khasraw, Mustafa M
Publication Date: 2021

Variant appearance in text: IDH1: R100Q
PubMed Link: 34222022
Variant Present in the following documents:
  • Main text
  • fonc-11-696402.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: IDH1: R100Q
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications
Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK
Publication Date: 2020-11-10

Variant appearance in text: IDH1: R100Q
PubMed Link: 33172502
Variant Present in the following documents:
  • 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Isocitrate dehydrogenase variants in cancer - Cellular consequences and therapeutic opportunities.

Current Opinion In Chemical Biology
Liu, Shuang S; Cadoux-Hudson, Tom T; Schofield, Christopher J CJ
Publication Date: 2020-08

Variant appearance in text: IDH1: R100Q
PubMed Link: 32777735
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare Cases of IDH1 Mutations in Spinal Cord Astrocytomas.

Acta Naturae
Konovalov, N A NA; Asyutin, D S DS; Shayhaev, E G EG; Kaprovoy, S V SV; Timonin, S Yu SY
Publication Date: 2020

Variant appearance in text: IDH1: R100Q
PubMed Link: 32742729
Variant Present in the following documents:
  • Main text
  • AN20758251-12-02-070.pdf
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: IDH1: R100Q
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: IDH1: R100Q
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



2-Hydroxyglutarate in Cancer Cells.

Antioxidants & Redox Signaling
Ježek, Petr P
Publication Date: 2020-11-01

Variant appearance in text: IDH1: R100Q
PubMed Link: 31847543
Variant Present in the following documents:
  • Main text
View BVdb publication page



O6-methylguanine-DNA methyltransferase promoter methylation and isocitrate dehydrogenase mutation as prognostic factors in a cohort of Saudi patients with glioblastoma.

Annals Of Saudi Medicine
Alassiri, Ali H AH; Alkhaibary, Ali A; Al-Sarheed, Saud S; Alsufani, Fahd F; Alharbi, Mohammed M; Alkhani, Ahmed A; Aloraidi, Ahmed A
Publication Date: 2019

Variant appearance in text: IDH1: Arg100Gln
PubMed Link: 31804140
Variant Present in the following documents:
  • Main text
  • 0256-4947.2019.410.pdf
View BVdb publication page



Beyond Brooding on Oncometabolic Havoc in IDH-Mutant Gliomas and AML: Current and Future Therapeutic Strategies.

Cancers
Madala, Hanumantha Rao HR; Punganuru, Surendra R SR; Arutla, Viswanath V; Misra, Subhasis S; Thomas, T J TJ; Srivenugopal, Kalkunte S KS
Publication Date: 2018-02-11

Variant appearance in text: IDH1: R100Q
PubMed Link: 29439493
Variant Present in the following documents:
  • Main text
  • cancers-10-00049.pdf
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: Arg100Gln
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_451.pdf
View BVdb publication page



Molecular mechanisms of isocitrate dehydrogenase 1 (IDH1) mutations identified in tumors: The role of size and hydrophobicity at residue 132 on catalytic efficiency.

The Journal Of Biological Chemistry
Avellaneda Matteo, Diego D; Grunseth, Adam J AJ; Gonzalez, Eric R ER; Anselmo, Stacy L SL; Kennedy, Madison A MA; Moman, Precious P; Scott, David A DA; Hoang, An A; Sohl, Christal D CD
Publication Date: 2017-05-12

Variant appearance in text: IDH1: R100Q
PubMed Link: 28330869
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: IDH1: 299G>A; Arg100Gln
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: IDH1: R100Q
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



IDH mutation, 1p19q codeletion and ATRX loss in WHO grade II gliomas.

Oncotarget
Leeper, Heather E HE; Caron, Alissa A AA; Decker, Paul A PA; Jenkins, Robert B RB; Lachance, Daniel H DH; Giannini, Caterina C
Publication Date: 2015-10-06

Variant appearance in text: IDH1: R100Q
PubMed Link: 26210286
Variant Present in the following documents:
  • Main text
  • oncotarget-06-30295.pdf
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: IDH1: 299G>A; Arg100Gln
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page



A new sensitive PCR assay for one-step detection of 12 IDH1/2 mutations in glioma.

Acta Neuropathologica Communications
Catteau, Aurélie A; Girardi, Hélène H; Monville, Florence F; Poggionovo, Cécile C; Carpentier, Sabrina S; Frayssinet, Véronique V; Voss, Jesse J; Jenkins, Robert R; Boisselier, Blandine B; Mokhtari, Karima K; Sanson, Marc M; Peyro-Saint-Paul, Hélène H; Giannini, Caterina C
Publication Date: 2014-06-02

Variant appearance in text: IDH1: Arg100Gln
PubMed Link: 24889502
Variant Present in the following documents:
  • Main text
  • 40478_2014_Article_132.pdf
  • 40478_2014_132_MOESM1_ESM.pdf
View BVdb publication page



D-2-Hydroxyglutarate producing neo-enzymatic activity inversely correlates with frequency of the type of isocitrate dehydrogenase 1 mutations found in glioma.

Acta Neuropathologica Communications
Pusch, Stefan S; Schweizer, Leonille L; Beck, Ann-Christin AC; Lehmler, Johanna-Marie JM; Weissert, Susanne S; Balss, Jörg J; Miller, Aubry K AK; von Deimling, Andreas A
Publication Date: 2014-02-14

Variant appearance in text: IDH1: R100Q
PubMed Link: 24529257
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Frequency and clinical significance of IDH1 mutations in Chinese acute myeloid leukemia patients.

Plos One
Guan, Lixun L; Gao, Li L; Wang, Lili L; Li, Meng M; Yin, Yue Y; Yu, Li L; Gao, Chunji C
Publication Date: 2013

Variant appearance in text: IDH1: R100Q
PubMed Link: 24376688
Variant Present in the following documents:
  • Main text
  • pone.0083334.pdf
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: R100Q
PubMed Link: 23877318
Variant Present in the following documents:
  • Main text
View BVdb publication page



IDH mutations in human glioma.

Neurosurgery Clinics Of North America
Kim, Won W; Liau, Linda M LM
Publication Date: 2012-07

Variant appearance in text: IDH1: R100Q
PubMed Link: 22748659
Variant Present in the following documents:
  • Main text
View BVdb publication page