IDH1 c.394_395delinsAT ;(p.R132I)

Variant ID: 2-209113112-CG-AT

NM_005896.2(IDH1):c.394_395delinsAT;(p.R132I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: R132I
PubMed Link: 36062346
Variant Present in the following documents:
  • MOL2-16-3916.pdf
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: R132I
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Association of TP53 Alteration with Tissue Specificity and Patient Outcome of IDH1-Mutant Glioma.

Cells
Murnyak, Balazs B; Huang, L Eric LE
Publication Date: 2021-08-17

Variant appearance in text: IDH1: R132I
PubMed Link: 34440884
Variant Present in the following documents:
  • cells-10-02116.pdf
View BVdb publication page



Prognostic importance of IDH mutations in chondrosarcoma: An individual patient data meta-analysis.

Cancer Medicine
Vuong, Huy Gia HG; Ngo, Tam N M TNM; Dunn, Ian F IF
Publication Date: 2021-07

Variant appearance in text: IDH1: R132I
PubMed Link: 34085407
Variant Present in the following documents:
  • Main text
  • CAM4-10-4415.pdf
View BVdb publication page



Genomic Profiling Identifies Association of IDH1/IDH2 Mutation with Longer Relapse-Free and Metastasis-Free Survival in High-Grade Chondrosarcoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Zhu, Guo Gord GG; Nafa, Khedoudja K; Agaram, Narasimhan N; Zehir, Ahmet A; Benayed, Ryma R; Sadowska, Justyna J; Borsu, Laetitia L; Kelly, Ciara C; Tap, William D WD; Fabbri, Nicola N; Athanasian, Edward E; Boland, Patrick J PJ; Healey, John H JH; Berger, Michael F MF; Ladanyi, Marc M; Hameed, Meera M
Publication Date: 2020-01-15

Variant appearance in text: IDH1: R132I
PubMed Link: 31615936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Isocitrate dehydrogenase 2 mutation is a frequent event in osteosarcoma detected by a multi-specific monoclonal antibody MsMab-1.

Cancer Medicine
Liu, Xing X; Kato, Yukinari Y; Kaneko, Mika Kato MK; Sugawara, Masato M; Ogasawara, Satoshi S; Tsujimoto, Yuta Y; Naganuma, Yasushi Y; Yamakawa, Mitsunori M; Tsuchiya, Takashi T; Takagi, Michiaki M
Publication Date: 2013-12

Variant appearance in text: IDH1: R132I
PubMed Link: 24403254
Variant Present in the following documents:
  • Main text
  • cam40002-0803.pdf
View BVdb publication page