IDH1 c.394C>A ;(p.R132S)

Variant ID: 2-209113113-G-T

NM_005896.2(IDH1):c.394C>A;(p.R132S)

This variant was identified in 370 publications

View GRCh38 version.




Publications:


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: R132S
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: R132S
PubMed Link: 37185778
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_32153.pdf
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: R132S
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: R132S
PubMed Link: 37049661
Variant Present in the following documents:
  • Main text
  • molecules-28-02890.pdf
View BVdb publication page



Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing.

Acta Neuropathologica Communications
Liserre, Roberto R; Branzoli, Francesca F; Pagani, Francesca F; Gryzik, Magdalena M; Cominelli, Manuela M; Miele, Evelina E; Marjańska, Małgorzata M; Doglietto, Francesco F; Poliani, Pietro Luigi PL
Publication Date: 2023-03-20

Variant appearance in text: IDH1: R132S
PubMed Link: 36941703
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1531.pdf
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



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: R132S
PubMed Link: 36903561
Variant Present in the following documents:
  • Main text
  • molecules-28-02315.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>A; Arg132Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: R132S
PubMed Link: 36690887
Variant Present in the following documents:
  • Main text
  • 40291_2022_Article_638.pdf
View BVdb publication page



DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research.

Frontiers In Genetics
Cui, Yunlong Y; Li, Hongfeng H; Liu, Pengfei P; Wang, Hailong H; Zhang, Zhenzhen Z; Qu, Hongzhu H; Tian, Caijuan C; Fang, Xiangdong X
Publication Date: 2022

Variant appearance in text: IDH1: Arg132Ser
PubMed Link: 36685970
Variant Present in the following documents:
  • Table5.xlsx, sheet 1
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: R132S
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: R132S
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.

Plos Genetics
Poll, Sarah R SR; Martin, Renan R; Wohler, Elizabeth E; Partan, Elizabeth S ES; Walek, Elizabeth E; Salman, Shaima S; Groepper, Daniel D; Kratz, Lisa L; Cernach, Mirlene M; Jesus-Garcia, Reynaldo R; Haldeman-Englert, Chad C; Choi, Yoon Jae YJ; Morris, Carol D CD; Cohen, Bernard B; Hoover-Fong, Julie J; Valle, David D; Semenza, Gregg L GL; Sobreira, Nara L M NLM
Publication Date: 2022-12-08

Variant appearance in text: IDH1: Arg132Ser
PubMed Link: 36480544
Variant Present in the following documents:
  • Main text
  • pgen.1010504.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>A; Arg132Ser
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>A; R132S
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: R132S
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: R132S
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.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: R132S
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>A
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>A; Arg132Ser
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: R132S
PubMed Link: 36042521
Variant Present in the following documents:
  • 13073_2022_1084_MOESM1_ESM.xls, sheet 2
  • 13073_2022_1084_MOESM1_ESM.xls, sheet 3
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: R132S
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: R132S; rs121913499
PubMed Link: 35922444
Variant Present in the following documents:
  • 41375_2022_1650_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Liver kinase B1 in exosomes inhibits immune checkpoint programmed death ligand 1 and metastatic progression of intrahepatic cholangiocarcinoma.

Oncology Reports
Liu, Zhuo Z; Zhou, Kunyan K; Zeng, Jian J; Zhou, Xin X; Li, Huanyu H; Peng, Ke K; Liu, Xiang X; Li, Feng F; Jiang, Bin B; Zhao, Ming M; Ma, Tiexiang T
Publication Date: 2022-09

Variant appearance in text: IDH1: R132S
PubMed Link: 35856436
Variant Present in the following documents:
  • Main text
  • or-48-03-08367.pdf
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: R132S
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 2
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
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>A; Arg132Ser; rs121913499
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: R132S
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



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: R132S
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM13_ESM.xlsx, sheet 3
View BVdb publication page



Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06

Variant appearance in text: IDH1: 394C>A; Arg132Ser
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.

Nature Communications
Bassal, Mahmoud A MA; Samaraweera, Saumya E SE; Lim, Kelly K; Benard, Brooks A BA; Bailey, Sheree S; Kaur, Satinder S; Leo, Paul P; Toubia, John J; Thompson-Peach, Chloe C; Nguyen, Tran T; Maung, Kyaw Ze Ya KZY; Casolari, Debora A DA; Iarossi, Diana G DG; Pagani, Ilaria S IS; Powell, Jason J; Pitson, Stuart S; Natera, Siria S; Roessner, Ute U; Lewis, Ian D ID; Brown, Anna L AL; Tenen, Daniel G DG; Robinson, Nirmal N; Ross, David M DM; Majeti, Ravindra R; Gonda, Thomas J TJ; Thomas, Daniel D; D'Andrea, Richard J RJ
Publication Date: 2022-05-12

Variant appearance in text: IDH1: R132S
PubMed Link: 35551192
Variant Present in the following documents:
  • 41467_2022_30223_MOESM5_ESM.xlsx, sheet 1
  • 41467_2022_30223_MOESM8_ESM.xlsx, sheet 1
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: R132S
PubMed Link: 35526267
Variant Present in the following documents:
  • Main text
  • CAM4-11-4122.pdf
View BVdb publication page



Clinical usefulness of 2-hydroxyglutarate as a biomarker in IDH-mutant chondrosarcoma.

Journal Of Bone Oncology
Nakagawa, Makoto M; Yamaguchi, Masayuki M; Endo, Makoto M; Machida, Yukino Y; Hattori, Ayuna A; Tanzawa, Fumie F; Tsutsumi, Shinji S; Kitabayashi, Issay I; Kawai, Akira A; Nakatani, Fumihiko F
Publication Date: 2022-06

Variant appearance in text: IDH1: R132S
PubMed Link: 35493690
Variant Present in the following documents:
  • Main text
  • main.pdf
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: 394C>A
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Genes
Buccoliero, Anna Maria AM; Giunti, Laura L; Moscardi, Selene S; Castiglione, Francesca F; Provenzano, Aldesia A; Sardi, Iacopo I; Scagnet, Mirko M; Genitori, Lorenzo L; Caporalini, Chiara C
Publication Date: 2022-03-31

Variant appearance in text: IDH1: Arg132Ser
PubMed Link: 35456430
Variant Present in the following documents:
  • Main text
  • genes-13-00624.pdf
View BVdb publication page



Phase I Study of High-Dose L-methylfolate in Combination with Temozolomide and Bevacizumab in Recurrent IDH wild-type High-Grade Glioma.

Cancer Research Communications
Salas, Lucas A LA; Stewart, Thomas G TG; Mobley, Bret C BC; Peng, Chengwei C; Liu, Jing J; Loganathan, Sudan N SN; Wang, Jialiang J; Ma, Yanjun Y; Berger, Mitchell S MS; Absher, Devin D; Hu, Yang Y; Moots, Paul L PL; Christensen, Brock C BC; Clark, Stephen W SW
Publication Date: 2022-01

Variant appearance in text: IDH1: R132S
PubMed Link: 35392283
Variant Present in the following documents:
  • Main text
  • crc-21-0088.pdf
View BVdb publication page



Impact of IDH1 and IDH2 mutation detection at diagnosis and in remission in patients with AML receiving allogeneic transplantation.

Blood Advances
Bill, Marius M; Jentzsch, Madlen M; Bischof, Lara L; Kohlschmidt, Jessica J; Grimm, Juliane J; Schmalbrock, Laura Katharina LK; Backhaus, Donata D; Brauer, Dominic D; Goldmann, Karoline K; Franke, Georg-Nikolaus GN; Vucinic, Vladan V; Niederwieser, Dietger D; Mims, Alice S AS; Platzbecker, Uwe U; Eisfeld, Ann-Kathrin AK; Schwind, Sebastian S
Publication Date: 2022-04-05

Variant appearance in text: IDH1: 394C>A; R132S
PubMed Link: 35381077
Variant Present in the following documents:
  • BLOODA_ADV-2021-005789-mmc1.pdf
View BVdb publication page



A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications.

Frontiers In Oncology
Tirrò, Elena E; Massimino, Michele M; Broggi, Giuseppe G; Romano, Chiara C; Minasi, Simone S; Gianno, Francesca F; Antonelli, Manila M; Motta, Gianmarco G; Certo, Francesco F; Altieri, Roberto R; Manzella, Livia L; Caltabiano, Rosario R; Barbagallo, Giuseppe Maria Vincenzo GMV; Buttarelli, Francesca Romana FR; Magro, Gaetano G; Giangaspero, Felice F; Vigneri, Paolo P
Publication Date: 2022

Variant appearance in text: IDH1: R132S
PubMed Link: 35372034
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives.

Pharmaceutics
Pinto-Merino, Álvaro Á; Labrador, Jorge J; Zubiaur, Pablo P; Alcaraz, Raquel R; Herrero, María José MJ; Montesinos, Pau P; Abad-Santos, Francisco F; Saiz-Rodríguez, Miriam M
Publication Date: 2022-03-03

Variant appearance in text: IDH1: 394C>A; rs121913499
PubMed Link: 35335935
Variant Present in the following documents:
  • Main text
  • pharmaceutics-14-00559.pdf
View BVdb publication page



Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04

Variant appearance in text: N/A
PubMed Link: 35306340
Variant Present in the following documents:
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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: IDH1: 394C>A; R132S
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
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IDH1/2 Mutations in Patients With Diffuse Gliomas: A Single Centre Retrospective Massively Parallel Sequencing Analysis.

Applied Immunohistochemistry & Molecular Morphology : Aimm
Sporikova, Zuzana Z; Slavkovsky, Rastislav R; Tuckova, Lucie L; Kalita, Ondrej O; Megova Houdova, Magdalena M; Ehrmann, Jiri J; Hajduch, Marian M; Hrabalek, Lumir L; Vaverka, Miroslav M
Publication Date: 2022-03-01

Variant appearance in text: IDH1: 394C>A; R132S
PubMed Link: 35262523
Variant Present in the following documents:
  • Main text
  • pai-30-178.pdf
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Probing altered enzyme activity in the biochemical characterization of cancer.

Bioscience Reports
Adam, Mowaffaq Adam Ahmed MAA; Sohl, Christal D CD
Publication Date: 2022-01-20

Variant appearance in text: IDH1: R132S
PubMed Link: 35048115
Variant Present in the following documents:
  • Main text
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Probing altered enzyme activity in the biochemical characterization of cancer.

Bioscience Reports
Adam, Mowaffaq Adam Ahmed MAA; Sohl, Christal D CD
Publication Date: 2022-02-25

Variant appearance in text: IDH1: R132S
PubMed Link: 35048115
Variant Present in the following documents:
  • Main text
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