IDH1 c.664C>T ;(p.R222C)

Variant ID: 2-209108185-G-A

NM_005896.2(IDH1):c.664C>T;(p.R222C)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Cancers
Suthapot, Praewa P; Chiangjong, Wararat W; Chaiyawat, Parunya P; Choochuen, Pongsakorn P; Pruksakorn, Dumnoensun D; Sangkhathat, Surasak S; Hongeng, Suradej S; Anurathapan, Usanarat U; Chutipongtanate, Somchai S
Publication Date: 2023-02-23

Variant appearance in text: IDH1: R222C
PubMed Link: 36900212
Variant Present in the following documents:
  • cancers-15-01418.pdf
View BVdb publication page



Proteomics separates adult-type diffuse high-grade gliomas in metabolic subgroups independent of 1p/19q codeletion and across IDH mutational status.

Cell Reports. Medicine
Bader, Jakob Maximilian JM; Deigendesch, Nikolaus N; Misch, Martin M; Mann, Matthias M; Koch, Arend A; Meissner, Felix F
Publication Date: 2022-12-23

Variant appearance in text: IDH1: R222C
PubMed Link: 36584682
Variant Present in the following documents:
  • Main text
  • mmc6.pdf
  • main.pdf
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: IDH1: 664C>T; R222C
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: IDH1: 664C>T; R222C
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: IDH1: 664C>T; R222C
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.

Molecular Oncology
Nørøxe, Dorte S DS; Yde, Christina W CW; Østrup, Olga O; Michaelsen, Signe R SR; Schmidt, Ane Y AY; Kinalis, Savvas S; Torp, Mathias H MH; Skjøth-Rasmussen, Jane J; Brennum, Jannick J; Hamerlik, Petra P; Poulsen, Hans S HS; Nielsen, Finn C FC; Lassen, Ulrik U
Publication Date: 2020-11

Variant appearance in text: IDH1: 664C>T; R222C
PubMed Link: 32885540
Variant Present in the following documents:
  • MOL2-14-2727-s001.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: R222C
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: IDH1: R222C
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Targeted next-generation sequencing of 565 neuro-oncology patients at UCLA: A single-institution experience.

Neuro-Oncology Advances
Ji, Matthew S MS; Eldred, Blaine S C BSC; Liu, Regina R; Pianka, Sean T ST; Molaie, Donna D; Kevan, Bryan B; Pan, Stephanie S; Lai, Thomas J TJ; Nguyen, Nhung T NT; Chow, Frances E FE; Yong, William H WH; Cox, Christopher D CD; Reeh, Devin N DN; Li, Tie T; Liau, Linda M LM; Nghiemphu, Phioanh L PL; Cloughesy, Timothy F TF; Li, Gang G; Lai, Albert A
Publication Date: 2020

Variant appearance in text: IDH1: R222C
PubMed Link: 32118206
Variant Present in the following documents:
  • Main text
  • vdaa009.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: IDH1: Arg222Cys
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_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: R222C
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013

Variant appearance in text: IDH1: R222C
PubMed Link: 24205039
Variant Present in the following documents:
  • pone.0077945.s001.xls, sheet 3
  • pone.0077945.s001.xls, sheet 2
View BVdb publication page