IDH1 c.394C>G ;(p.R132G)

Variant ID: 2-209113113-G-C

NM_005896.2(IDH1):c.394C>G;(p.R132G)

This variant was identified in 400 publications

View GRCh38 version.




Publications:


Novel sights on therapeutic, prognostic, and diagnostics aspects of non-coding RNAs in glioblastoma multiforme.

Metabolic Brain Disease
Mekala, Janaki Ramaiah JR; Adusumilli, Kowsalya K; Chamarthy, Sahiti S; Angirekula, Hari Sai Ram HSR
Publication Date: 2023-05-30

Variant appearance in text: IDH1: R132G
PubMed Link: 37249862
Variant Present in the following documents:
  • Main text
  • 11011_2023_Article_1234.pdf
View BVdb publication page



The Role of Biomarkers in Guiding Clinical Decision-Making in Oncology.

Journal Of The Advanced Practitioner In Oncology
Moore, Donald C DC; Guinigundo, Andrew S AS
Publication Date: 2023-04

Variant appearance in text: IDH1: R132G
PubMed Link: 37206905
Variant Present in the following documents:
  • Main text
  • jadpro-14-15.pdf
View BVdb publication page



Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.

Scientific Reports
Lee, Kwanghoon K; Kim, Seong-Ik SI; Kim, Eric Eunshik EE; Shim, Yu-Mi YM; Won, Jae-Kyung JK; Park, Chul-Kee CK; Choi, Seung Hong SH; Yun, Hongseok H; Lee, Hyunju H; Park, Sung-Hye SH
Publication Date: 2023-04-25

Variant appearance in text: IDH1: R132G
PubMed Link: 37185778
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_32153.pdf
View BVdb publication page



Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Scientific Reports
Park, Sooyong S; Yun, Jiwon J; Choi, Sung Yoon SY; Jeong, Dajeong D; Gu, Ja-Yoon JY; Lee, Jee-Soo JS; Seong, Moon-Woo MW; Chang, Yoon Hwan YH; Yun, Hongseok H; Kim, Hyun Kyung HK
Publication Date: 2023-05-04

Variant appearance in text: IDH1: 394C>G; Arg132Gly
PubMed Link: 37142644
Variant Present in the following documents:
  • 41598_2023_33928_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The regulatory mechanisms and inhibitors of isocitrate dehydrogenase 1 in cancer.

Acta Pharmaceutica Sinica. B
Liu, Yang Y; Xu, Wei W; Li, Mingxue M; Yang, Yueying Y; Sun, Dejuan D; Chen, Lidian L; Li, Hua H; Chen, Lixia L
Publication Date: 2023-04

Variant appearance in text: IDH1: R132G
PubMed Link: 37139412
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Mutated Isocitrate Dehydrogenase (mIDH) as Target for PET Imaging in Gliomas.

Molecules (Basel, Switzerland)
Neumaier, Felix F; Zlatopolskiy, Boris D BD; Neumaier, Bernd B
Publication Date: 2023-03-23

Variant appearance in text: IDH1: R132G
PubMed Link: 37049661
Variant Present in the following documents:
  • Main text
  • molecules-28-02890.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: IDH1: R132G
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 5
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine
Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X
Publication Date: 2023-03-27

Variant appearance in text: IDH1: 394C>G; R132G
PubMed Link: 36971051
Variant Present in the following documents:
  • CAM4-12-10267-s001.xlsx, sheet 1
View BVdb publication page



Preclinical development and evaluation of nanobody-based CD70-specific CAR T cells for the treatment of acute myeloid leukemia.

Cancer Immunology, Immunotherapy : Cii
Cheng, Jiali J; Ge, Tong T; Zhu, Xiaojian X; Wang, Jue J; Zeng, Yuhao Y; Mu, Wei W; Cai, Haodong H; Dai, Zhenyu Z; Jin, Jin J; Yang, Yongkun Y; Hu, Guang G; Mao, Xia X; Zhou, Jianfeng J; Zhu, Li L; Huang, Liang L
Publication Date: 2023-03-17

Variant appearance in text: IDH1: R132G
PubMed Link: 36932256
Variant Present in the following documents:
  • 262_2023_3422_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Genomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing.

Cancers
Ambayya, Angeli A; Razali, Rozaimi R; Sulong, Sarina S; Zulkefli, Ezzanie Suffya ES; Yap, Yee Yee YY; Sathar, Jameela J; Hassan, Rosline R
Publication Date: 2023-02-22

Variant appearance in text: IDH1: Arg132Gly
PubMed Link: 36900179
Variant Present in the following documents:
  • cancers-15-01386.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: IDH1: 394C>G; Arg132Gly
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Human Genomics
Yun, Jiwon J; Song, Hyojin H; Kim, Sung-Min SM; Kim, Soonok S; Kwon, Seok Ryun SR; Lee, Young Eun YE; Jeong, Dajeong D; Park, Jae Hyeon JH; Kwon, Sunghoon S; Yun, Hongseok H; Lee, Dong Soon DS
Publication Date: 2023-02-23

Variant appearance in text: IDH1: 394C>G; Arg132Gly
PubMed Link: 36814285
Variant Present in the following documents:
  • 40246_2023_458_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: IDH1: 394C>G; R132G
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: IDH1: R132G
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.

Nature Communications
Boy, Maxime M; Bisio, Valeria V; Zhao, Lin-Pierre LP; Guidez, Fabien F; Schell, Bérénice B; Lereclus, Emilie E; Henry, Guylaine G; Villemonteix, Juliette J; Rodrigues-Lima, Fernando F; Gagne, Katia K; Retiere, Christelle C; Larcher, Lise L; Kim, Rathana R; Clappier, Emmanuelle E; Sebert, Marie M; Mekinian, Arsène A; Fain, Olivier O; Caignard, Anne A; Espeli, Marion M; Balabanian, Karl K; Toubert, Antoine A; Fenaux, Pierre P; Ades, Lionel L; Dulphy, Nicolas N
Publication Date: 2023-02-03

Variant appearance in text: IDH1: R132G
PubMed Link: 36737440
Variant Present in the following documents:
  • 41467_2023_36193_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Evaluation of IDH Mutation Status in Formalin-Fixed Paraffin-Embedded Tissue in Gliomas.

Molecular Diagnosis & Therapy
Nelson, Ernest J EJ; Gubbiotti, Maria A MA; Carlin, Alicia M AM; Nasrallah, MacLean P MP; Van Deerlin, Vivianna M VM; Herlihy, Sarah E SE
Publication Date: 2023-01-23

Variant appearance in text: IDH1: 394C>G; R132G
PubMed Link: 36690887
Variant Present in the following documents:
  • Main text
  • 40291_2022_Article_638.pdf
View BVdb publication page



Measurable Residual Disease Monitoring by Locked Nucleic Acid Quantitative Real-Time PCR Assay for IDH1/2 Mutation in Adult AML.

Cancers
Kao, Hsiao-Wen HW; Kuo, Ming-Chung MC; Huang, Ying-Jung YJ; Chang, Hung H; Hu, Shu-Fen SF; Huang, Chein-Fuang CF; Hung, Yu-Shin YS; Lin, Tung-Liang TL; Ou, Che-Wei CW; Lien, Ming-Yu MY; Wu, Jin-Hou JH; Chen, Chih-Cheng CC; Shih, Lee-Yung LY
Publication Date: 2022-12-15

Variant appearance in text: IDH1: R132G
PubMed Link: 36551690
Variant Present in the following documents:
  • Main text
  • cancers-14-06205.pdf
View BVdb publication page



A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: IDH1: R132G
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Adult type diffuse gliomas in the new 2021 WHO Classification.

Pathologica
Antonelli, Manila M; Poliani, Pietro Luigi PL
Publication Date: 2022-12

Variant appearance in text: IDH1: R132G
PubMed Link: 36534419
Variant Present in the following documents:
  • Main text
  • pathol-2022-06-397.pdf
View BVdb publication page



Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ
Publication Date: 2022-12-06

Variant appearance in text: IDH1: 394C>G; Arg132Gly
PubMed Link: 36442087
Variant Present in the following documents:
  • pnas.2211429119.sd02.xlsx, sheet 1
View BVdb publication page



A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: IDH1: 394C>G; R132G
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Towards a single-assay approach: a combined DNA/RNA sequencing panel eliminates diagnostic redundancy and detects clinically-relevant fusions in neuropathology.

Acta Neuropathologica Communications
Slocum, Cheyanne C CC; Park, Hyeon Jin HJ; Baek, Inji I; Catalano, Jeff J; Wells, Martin T MT; Liechty, Benjamin B; Mathew, Susan S; Song, Wei W; Solomon, James P JP; Pisapia, David J DJ
Publication Date: 2022-11-17

Variant appearance in text: IDH1: R132G
PubMed Link: 36397144
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1466.pdf
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: IDH1: R132G
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Evaluation of DNA Methylation Array for Glioma Tumor Profiling and Description of a Novel Epi-Signature to Distinguish IDH1/IDH2 Mutant and Wild-Type Tumors.

Genes
Schenkel, Laila C LC; Mathew, Joseph J; Hirte, Hal H; Provias, John J; Paré, Guillaume G; Chong, Michael M; Grafodatskaya, Daria D; McCready, Elizabeth E
Publication Date: 2022-11-09

Variant appearance in text: IDH1: R132G
PubMed Link: 36360312
Variant Present in the following documents:
  • Main text
  • genes-13-02075.pdf
View BVdb publication page



Newest Therapies for Cholangiocarcinoma: An Updated Overview of Approved Treatments with Transplant Oncology Vision.

Cancers
Zhang, Yuqi Y; Esmail, Abdullah A; Mazzaferro, Vincenzo V; Abdelrahim, Maen M
Publication Date: 2022-10-17

Variant appearance in text: IDH1: R132G
PubMed Link: 36291857
Variant Present in the following documents:
  • cancers-14-05074.pdf
View BVdb publication page



Examining Stripes on a Herd of Zebras: Impact of Genomic Matching for Ultrarare Sarcomas in Phase 1 Clinical Trials (SAMBA 102).

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Moyers, Justin T JT; Carmagnani Pestana, Roberto R; Roszik, Jason J; Hong, David S DS; Naing, Aung A; Fu, Siqing S; Piha-Paul, Sarina S; Yap, Timothy T; Karp, Daniel D; Rodon, Jordi J; Livingston, J Andrew JA; Zarzour, Maria Alejandra MA; Ravi, Vinod V; Patel, Shreyaskumar S; Benjamin, Robert S RS; Ludwig, Joseph J; Herzog, Cynthia C; Ratan, Ravin R; Somaiah, Neeta N; Conley, Anthony A; Gorlick, Richard R; Meric-Bernstam, Funda F; Subbiah, Vivek V
Publication Date: 2022-10-26

Variant appearance in text: IDH1: R132G
PubMed Link: 36288393
Variant Present in the following documents:
  • ccr-22-2509_supplementary_tables_s1-s4_suppts1-ts4.pdf
View BVdb publication page



The mutational landscape of cancer's vulnerability to ionizing radiation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Gopal, Priyanka P; Yard, Brian D BD; Petty, Aaron A; Lal, Jessica C JC; Bera, Titas K TK; Hoang, Trung Q TQ; Buhimschi, Alexandru B AB; Abazeed, Mohamed E ME
Publication Date: 2022-10-12

Variant appearance in text: IDH1: R132G
PubMed Link: 36222846
Variant Present in the following documents:
  • ccr-22-1914_supplementary_data_3_suppds3.xlsx, sheet 1
  • ccr-22-1914_supplementary_data_2_suppds2.xlsx, sheet 1
View BVdb publication page



Expression of CD133 Cancer Stem Cell Marker in IDH-Mutant and IDH-wildtype (Isocitrate Dehydrogenase) Astrocytoma.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Sabunga, Olivia Desty OD; Kaelan, Cahyono C; Zainuddin, Andi Alfian AA; Sungowati, Ni Ketut NK; Cangara, Muhammad Husni MH; Miskad, Upik U
Publication Date: 2022-09-01

Variant appearance in text: IDH1: R132G
PubMed Link: 36172668
Variant Present in the following documents:
  • Main text
  • APJCP-23-3051.pdf
View BVdb publication page



Evaluation of two new highly multiplexed PCR assays as an alternative to next-generation sequencing for IDH1/2 mutation detection.

Molecular Oncology
Favre, Loetitia L; Sako, Nouhoum N; Tarfi, Sihem S; Quang, Violaine Tran VT; Joy, Corine C; Dupuy, Aurélie A; Guillerm, Erell E; Gaulard, Philippe P; Wagner-Ballon, Orianne O; Pujals, Anaïs A; Sloma, Ivan I
Publication Date: 2022-12

Variant appearance in text: IDH1: 394C>G; R132G
PubMed Link: 36062346
Variant Present in the following documents:
  • Main text
  • MOL2-16-3916.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: 394C>G
PubMed Link: 36053463
Variant Present in the following documents:
  • Main text
  • 40291_2022_Article_612.pdf
View BVdb publication page



A genetic model for central chondrosarcoma evolution correlates with patient outcome.

Genome Medicine
Cross, William W; Lyskjær, Iben I; Lesluyes, Tom T; Hargreaves, Steven S; Strobl, Anna-Christina AC; Davies, Christopher C; Waise, Sara S; Hames-Fathi, Shadi S; Oukrif, Dahmane D; Ye, Hongtao H; Amary, Fernanda F; Tirabosco, Roberto R; Gerrand, Craig C; Baker, Toby T; Barnes, David D; Steele, Christopher C; Alexandrov, Ludmil L; Bond, Gareth G; , ; Cool, Paul P; Pillay, Nischalan N; Van Loo, Peter P; Flanagan, Adrienne M AM
Publication Date: 2022-08-30

Variant appearance in text: IDH1: R132G
PubMed Link: 36042521
Variant Present in the following documents:
  • 13073_2022_1084_MOESM1_ESM.xls, sheet 3
  • 13073_2022_1084_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Isocitrate Dehydrogenase IDH1 and IDH2 Mutations in Human Cancer: Prognostic Implications for Gliomas.

British Journal Of Biomedical Science
Murugan, A K AK; Alzahrani, A S AS
Publication Date: 2022

Variant appearance in text: IDH1: R132G
PubMed Link: 35996504
Variant Present in the following documents:
  • Main text
  • bjbs-79-10208.pdf
View BVdb publication page



Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Leukemia
Jahn, Nikolaus N; Jahn, Ekaterina E; Saadati, Maral M; Bullinger, Lars L; Larson, Richard A RA; Ottone, Tiziana T; Amadori, Sergio S; Prior, Thomas W TW; Brandwein, Joseph M JM; Appelbaum, Frederick R FR; Medeiros, Bruno C BC; Tallman, Martin S MS; Ehninger, Gerhard G; Heuser, Michael M; Ganser, Arnold A; Pallaud, Celine C; Gathmann, Insa I; Krzykalla, Julia J; Benner, Axel A; Bloomfield, Clara D CD; Thiede, Christian C; Stone, Richard M RM; Döhner, Hartmut H; Döhner, Konstanze K
Publication Date: 2022-09

Variant appearance in text: IDH1: R132G
PubMed Link: 35922444
Variant Present in the following documents:
  • 41375_2022_1650_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Nature Communications
Möhrmann, Lino L; Werner, Maximilian M; Oleś, Małgorzata M; Mock, Andreas A; Uhrig, Sebastian S; Jahn, Arne A; Kreutzfeldt, Simon S; Fröhlich, Martina M; Hutter, Barbara B; Paramasivam, Nagarajan N; Richter, Daniela D; Beck, Katja K; Winter, Ulrike U; Pfütze, Katrin K; Heilig, Christoph E CE; Teleanu, Veronica V; Lipka, Daniel B DB; Zapatka, Marc M; Hanf, Dorothea D; List, Catrin C; Allgäuer, Michael M; Penzel, Roland R; Rüter, Gina G; Jelas, Ivan I; Hamacher, Rainer R; Falkenhorst, Johanna J; Wagner, Sebastian S; Brandts, Christian H CH; Boerries, Melanie M; Illert, Anna L AL; Metzeler, Klaus H KH; Westphalen, C Benedikt CB; Desuki, Alexander A; Kindler, Thomas T; Folprecht, Gunnar G; Weichert, Wilko W; Brors, Benedikt B; Stenzinger, Albrecht A; Schröck, Evelin E; Hübschmann, Daniel D; Horak, Peter P; Heining, Christoph C; Fröhling, Stefan S; Glimm, Hanno H
Publication Date: 2022-08-02

Variant appearance in text: IDH1: R132G
PubMed Link: 35918329
Variant Present in the following documents:
  • 41467_2022_31866_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: IDH1: R132G
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Therapy-related clonal cytopenia as a precursor to therapy-related myeloid neoplasms.

Blood Cancer Journal
Shah, Mithun Vinod MV; Mangaonkar, Abhishek A AA; Begna, Kebede H KH; Alkhateeb, Hassan B HB; Greipp, Patricia P; Nanaa, Ahmad A; Elliott, Michelle A MA; Hogan, William J WJ; Litzow, Mark R MR; McCullough, Kristen K; Tefferi, Ayalew A; Gangat, Naseema N; Patnaik, Mrinal M MM; Al-Kali, Aref A; He, Rong R; Chen, Dong D
Publication Date: 2022-07-08

Variant appearance in text: IDH1: 394C>G; Arg132Gly
PubMed Link: 35803921
Variant Present in the following documents:
  • 41408_2022_703_MOESM2_ESM.pdf
View BVdb publication page



The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: IDH1: 394C>G; Arg132Gly
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.

World Journal Of Surgical Oncology
Lv, Haiyan H; Jiang, Hantao H; Zhang, Minge M; Luo, Huarong H; Hong, Zhenghua Z; Yang, Hai H; Xu, Weiming W; Shen, Bo B; Zhang, Wei W; Qiu, Hao H; Zhu, Rangteng R
Publication Date: 2022-06-29

Variant appearance in text: IDH1: 394C>G; Arg132Gly; rs121913499
PubMed Link: 35765075
Variant Present in the following documents:
  • Main text
  • 12957_2022_Article_2686.pdf
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Detection of IDH1 Mutations in Plasma Using BEAMing Technology in Patients with Gliomas.

Cancers
Cabezas-Camarero, Santiago S; García-Barberán, Vanesa V; Pérez-Alfayate, Rebeca R; Casado-Fariñas, Isabel I; Sloane, Hillary H; Jones, Frederick S FS; Pérez-Segura, Pedro P
Publication Date: 2022-06-11

Variant appearance in text: IDH1: R132G
PubMed Link: 35740557
Variant Present in the following documents:
  • Main text
  • cancers-14-02891.pdf
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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: IDH1: R132G
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: IDH1: R132G
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
  • 41586_2022_4785_MOESM13_ESM.xlsx, sheet 3
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
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Olutasidenib (FT-2102) in patients with relapsed or refractory IDH1-mutant glioma: a multicenter, open-label, phase 1b/2 trial.

Neuro-Oncology
de la Fuente, Macarena I MI; Colman, Howard H; Rosenthal, Mark M; Van Tine, Brian A BA; Levacic, Danijela D; Walbert, Tobias T; Gan, Hui K HK; Vieito, Maria M; Milhem, Mohammed M MM; Lipford, Kathryn K; Forsyth, Sanjeev S; Guichard, Sylvie M SM; Mikhailov, Yelena Y; Sedkov, Alexander A; Brevard, Julie J; Kelly, Patrick F PF; Mohamed, Hesham H; Monga, Varun V
Publication Date: 2022-05-25

Variant appearance in text: IDH1: R132G
PubMed Link: 35639513
Variant Present in the following documents:
  • noac139.pdf
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