IDH1 c.532G>A ;(p.V178I)

Variant ID: 2-209108317-C-T

NM_005896.2(IDH1):c.532G>A;(p.V178I)

This variant was identified in 73 publications

View GRCh38 version.




Publications:


Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: IDH1: V178I
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Liquid biopsy of cerebrospinal fluid enables selective profiling of glioma molecular subtypes at first clinical presentation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Orzan, Francesca F; De Bacco, Francesca F; Lazzarini, Elisabetta E; Crisafulli, Giovanni G; Gasparini, Alessandra A; Dipasquale, Angelo A; Barault, Ludovic L; Macagno, Marco M; Persico, Pasquale P; Pessina, Federico F; Bono, Beatrice B; Giordano, Laura L; Zeppa, Pietro P; Melcarne, Antonio A; Cassoni, Paola P; Garbossa, Diego D; Santoro, Armando A; Comoglio, Paolo M PM; Indraccolo, Stefano S; Simonelli, Matteo M; Boccaccio, Carla C
Publication Date: 2023-01-17

Variant appearance in text: IDH1: 532G>A; V178I
PubMed Link: 36648487
Variant Present in the following documents:
  • ccr-22-2903_supplementary_data_2_suppds2.xlsx, sheet 2
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: IDH1: V178I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications
Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V
Publication Date: 2022-09-07

Variant appearance in text: IDH1: V178I
PubMed Link: 36071033
Variant Present in the following documents:
  • 41467_2022_32828_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Germline genetic biomarkers to stratify patients for personalized radiation treatment.

Journal Of Translational Medicine
Deichaite, Ida I; Hopper, Austin A; Krockenberger, Lena L; Sears, Timothy J TJ; Sutton, Leisa L; Ray, Xenia X; Sharabi, Andrew A; Navon, Ami A; Sanghvi, Parag P; Carter, Hannah H; Moiseenko, Vitali V
Publication Date: 2022-08-12

Variant appearance in text: IDH1: Val178Ile; rs34218846
PubMed Link: 35962345
Variant Present in the following documents:
  • 12967_2022_Article_3561.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: V178I
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
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: 532G>A; Val178Ile
PubMed Link: 35456430
Variant Present in the following documents:
  • Main text
  • genes-13-00624.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: IDH1: 532G>A; Val178Ile; rs34218846
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: IDH1: V178I
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: IDH1: V178I
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Analysis of ALK, IDH1, IDH2 and MMP8 somatic mutations in differentiated thyroid cancers.

Molecular And Clinical Oncology
Murugan, Avaniyapuram Kannan AK; Qasem, Ebtesam E; Al-Hindi, Hindi H; Alzahrani, Ali S AS
Publication Date: 2021-10

Variant appearance in text: IDH1: V178I
PubMed Link: 34462665
Variant Present in the following documents:
  • Main text
  • mco-15-04-02373.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: rs34218846
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



NGS-Based Analysis of Atypical Deep Penetrating Nevi.

Cancers
Manca, Antonella A; Sini, Maria Cristina MC; Cesinaro, Anna Maria AM; Portelli, Francesca F; Urso, Carmelo C; Lentini, Maria M; Cardia, Roberta R; Alos, Llucia L; Cook, Martin M; Simi, Sara S; Paliogiannis, Panagiotis P; De Giorgi, Vincenzo V; Cossu, Antonio A; Palmieri, Giuseppe G; Massi, Daniela D
Publication Date: 2021-06-19

Variant appearance in text: IDH1: V178I
PubMed Link: 34205480
Variant Present in the following documents:
  • Main text
  • cancers-13-03066.pdf
View BVdb publication page



Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget
Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A
Publication Date: 2021-03-16

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 33796225
Variant Present in the following documents:
  • oncotarget-12-578-s005.xlsx, sheet 1
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: V178I; rs34218846
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Association of high-risk neuroblastoma classification based on expression profiles with differentiation and metabolism.

Plos One
Kimura, Shunsuke S; Sekiguchi, Masahiro M; Watanabe, Kentaro K; Hiwatarai, Mitsuteru M; Seki, Masafumi M; Yoshida, Kenichi K; Isobe, Tomoya T; Shiozawa, Yusuke Y; Suzuki, Hiromichi H; Hoshino, Noriko N; Hayashi, Yasuhide Y; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J
Publication Date: 2021

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 33465163
Variant Present in the following documents:
  • pone.0245526.s011.xlsx, sheet 1
View BVdb publication page



The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03

Variant appearance in text: IDH1: 532G>A; Val178Ile; rs34218846
PubMed Link: 33402737
Variant Present in the following documents:
  • 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: IDH1: V178I
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.

Molecular Oncology
Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR
Publication Date: 2021-02

Variant appearance in text: IDH1: V178I
PubMed Link: 33169510
Variant Present in the following documents:
  • MOL2-15-381-s009.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: IDH1: V178I
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Effect of Citric Acid Cycle Genetic Variants and Their Interactions with Obesity, Physical Activity and Energy Intake on the Risk of Colorectal Cancer: Results from a Nested Case-Control Study in the UK Biobank.

Cancers
Cho, Sooyoung S; Song, Nan N; Choi, Ji-Yeob JY; Shin, Aesun A
Publication Date: 2020-10-12

Variant appearance in text: rs34218846
PubMed Link: 33053772
Variant Present in the following documents:
  • Main text
  • cancers-12-02939.pdf
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: V178I
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: IDH1: V178I
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: IDH1: 532G>A; V178I; rs34218846
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
  • 12920_2020_668_MOESM7_ESM.xls, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: IDH1: 532G>A; Val178Ile
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 2
  • Supplementary_Data2.xlsx, sheet 3
  • Supplementary_Data2.xlsx, sheet 4
View BVdb publication page



Mapping actionable pathways and mutations in brain tumours using targeted RNA next generation sequencing.

Acta Neuropathologica Communications
Lenting, Krissie K; van den Heuvel, Corina N A M CNAM; van Ewijk, Anne A; ElMelik, Duaa D; de Boer, Remco R; Tindall, Elizabeth E; Wei, Ge G; Kusters, Benno B; Te Dorsthorst, Maarten M; Ter Laan, Mark M; Huynen, Martijn A MA; Leenders, William P WP
Publication Date: 2019-11-20

Variant appearance in text: IDH1: V178I
PubMed Link: 31747973
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_826.pdf
View BVdb publication page



Detection Of Mutations In The Isocitrate Dehydrogenase Genes (IDH1/IDH2) Using castPCRTM In Patients With AML And Their Clinical Impact In Mexico City.

Oncotargets And Therapy
Olarte, Irma I; García, Anel A; Ramos, Christian C; Arratia, Brenda B; Centeno, Federico F; Paredes, Johanna J; Rozen, Etta E; Kassack, Juan J; Collazo, Juan J; Martínez, Adolfo A
Publication Date: 2019

Variant appearance in text: IDH1: 532G>A; V178I
PubMed Link: 31632056
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports
Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Publication Date: 2019-09-23

Variant appearance in text: IDH1: Val178Ile; rs34218846
PubMed Link: 31548566
Variant Present in the following documents:
  • 41598_2019_49611_MOESM1_ESM.pdf
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Somatic genetic alterations in a large cohort of pediatric thyroid nodules.

Endocrine Connections
Pekova, Barbora B; Dvorakova, Sarka S; Sykorova, Vlasta V; Vacinova, Gabriela G; Vaclavikova, Eliska E; Moravcova, Jitka J; Katra, Rami R; Vlcek, Petr P; Sykorova, Pavla P; Kodetova, Daniela D; Vcelak, Josef J; Bendlova, Bela B
Publication Date: 2019-06

Variant appearance in text: IDH1: 532G>A; V178I; rs34218846
PubMed Link: 31085772
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers In Oncology
Han, Mei M; Jia, Lina L; Lv, Wencai W; Wang, Lihui L; Cui, Wei W
Publication Date: 2019

Variant appearance in text: IDH1: V178I
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08

Variant appearance in text: IDH1: 532G>A; V178I
PubMed Link: 30962452
Variant Present in the following documents:
  • 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Identification of PD-L2, B7-H3 and CTLA-4 immune checkpoint proteins in genetic subtypes of meningioma.

Oncoimmunology
Proctor, Dustin T DT; Patel, Zeel Z; Lama, Sanju S; Resch, Lothar L; van Marle, Guido G; Sutherland, Garnette R GR
Publication Date: 2019

Variant appearance in text: IDH1: V178I
PubMed Link: 30546952
Variant Present in the following documents:
  • Main text
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Characterization of Squamous Cell Lung Cancers from Appalachian Kentucky.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Liu, Jinpeng J; Murali, Thilakam T; Yu, Tianxin T; Liu, Chunming C; Sivakumaran, Theru A TA; Moseley, Hunter N B HNB; Zhulin, Igor B IB; Weiss, Heidi L HL; Durbin, Eric B EB; Ellingson, Sally R SR; Liu, Jinze J; Huang, Bin B; Hallahan, Brent J BJ; Horbinski, Craig M CM; Hodges, Kurt K; Napier, Dana L DL; Bocklage, Thèrése T; Mueller, Joseph J; Vanderford, Nathan L NL; Fardo, David W DW; Wang, Chi C; Arnold, Susanne M SM
Publication Date: 2019-02

Variant appearance in text: IDH1: V178I
PubMed Link: 30377206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: IDH1: 532G>A; V178I; rs34218846
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_17.xlsx, sheet 1
View BVdb publication page



Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Palsgrove, Doreen N DN; Brosnan-Cashman, Jacqueline A JA; Giannini, Caterina C; Raghunathan, Aditya A; Jentoft, Mark M; Bettegowda, Chetan C; Gokden, Murat M; Lin, Doris D; Yuan, Ming M; Lin, Ming-Tseh MT; Heaphy, Christopher M CM; Rodriguez, Fausto J FJ
Publication Date: 2018-12

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 29973652
Variant Present in the following documents:
  • Main text
  • NIHMS972465-supplement-2.xlsx, sheet 1
  • nihms972465.pdf
  • NIHMS972465-supplement-1.xlsx, sheet 11
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: IDH1: 532G>A; Val178Ile; rs34218846
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 3
  • bty518_supplementary_data_s7.xlsx, sheet 8
View BVdb publication page



Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications
Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R
Publication Date: 2018-05-22

Variant appearance in text: IDH1: 532G>A; V178I; rs34218846
PubMed Link: 29789628
Variant Present in the following documents:
  • 41467_2018_4356_MOESM11_ESM.xlsx, sheet 11
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: IDH1: 532G>A; rs34218846
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of the single-nucleotide polymorphism rs11554137 (IDH1105GGT) in brain tumors of a cohort of Italian patients.

Scientific Reports
Acquaviva, Giorgia G; Visani, Michela M; de Biase, Dario D; Marucci, Gianluca G; Franceschi, Enrico E; Tosoni, Alicia A; Brandes, Alba A AA; Rhoden, Kerry J KJ; Pession, Annalisa A; Tallini, Giovanni G
Publication Date: 2018-03-13

Variant appearance in text: IDH1: V178I
PubMed Link: 29535392
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_22222.pdf
View BVdb publication page



The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30

Variant appearance in text: IDH1: 532G>A; V178I; rs34218846
PubMed Link: 29487696
Variant Present in the following documents:
  • Main text
  • oncotarget-09-7844-s003.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget
Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG
Publication Date: 2017-12-19

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 29340109
Variant Present in the following documents:
  • oncotarget-08-112036-s003.xlsx, sheet 1
View BVdb publication page



Altered metabolic landscape in IDH-mutant gliomas affects phospholipid, energy, and oxidative stress pathways.

Embo Molecular Medicine
Fack, Fred F; Tardito, Saverio S; Hochart, Guillaume G; Oudin, Anais A; Zheng, Liang L; Fritah, Sabrina S; Golebiewska, Anna A; Nazarov, Petr V PV; Bernard, Amandine A; Hau, Ann-Christin AC; Keunen, Olivier O; Leenders, William W; Lund-Johansen, Morten M; Stauber, Jonathan J; Gottlieb, Eyal E; Bjerkvig, Rolf R; Niclou, Simone P SP
Publication Date: 2017-12

Variant appearance in text: IDH1: V178I
PubMed Link: 29054837
Variant Present in the following documents:
  • Main text
  • EMMM-9-1681.pdf
View BVdb publication page



Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Oncotarget
Nakagaki, Takafumi T; Tamura, Miyuki M; Kobashi, Kenta K; Koyama, Ryota R; Fukushima, Hisayo H; Ohashi, Tomoko T; Idogawa, Masashi M; Ogi, Kazuhiro K; Hiratsuka, Hiroyoshi H; Tokino, Takashi T; Sasaki, Yasushi Y
Publication Date: 2017-08-29

Variant appearance in text: IDH1: Val178Ile
PubMed Link: 28938622
Variant Present in the following documents:
  • oncotarget-08-59113-s005.xlsx, sheet 1
View BVdb publication page



A Case Report Demonstrating the Potential Clinical Benefit of Exhaustive Molecular Profiling in an Aggressive Muscle-Invasive High-Grade Metastatic Urothelial Carcinoma.

Case Reports In Oncology
Ramírez de Olano, Amaya A; Bellmunt, Joaquim J; Rodrigo, Ana A; Álvarez, Luis L; Terrádez, Adriana A; García-Foncillas, Jesús J; Laes, Jean-François JF
Publication Date: 2017

Variant appearance in text: IDH1: V178I
PubMed Link: 28690523
Variant Present in the following documents:
  • Main text
  • cro-0010-0493.pdf
View BVdb publication page



Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial: Molecular Analysis for Therapy Choice Clinical Trial.

The Journal Of Molecular Diagnostics : Jmd
Lih, Chih-Jian CJ; Harrington, Robin D RD; Sims, David J DJ; Harper, Kneshay N KN; Bouk, Courtney H CH; Datta, Vivekananda V; Yau, Jonathan J; Singh, Rajesh R RR; Routbort, Mark J MJ; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Mantha, Geeta S GS; Krishnamurthy, Savitri S; Ronski, Karyn K; Walther, Zenta Z; Finberg, Karin E KE; Canosa, Sandra S; Robinson, Hayley H; Raymond, Amelia A; Le, Long P LP; McShane, Lisa M LM; Polley, Eric C EC; Conley, Barbara A BA; Doroshow, James H JH; Iafrate, A John AJ; Sklar, Jeffrey L JL; Hamilton, Stanley R SR; Williams, P Mickey PM
Publication Date: 2017-03

Variant appearance in text: IDH1: Val178Ile
PubMed Link: 28188106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: IDH1: 532G>A; V178I; rs34218846
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
  • ncomms12475-s3.xlsx, sheet 1
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: IDH1: V178I
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page



A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2016-01

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 27148581
Variant Present in the following documents:
  • supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.

Journal Of Neuro-Oncology
van de Nes, Johannes J; Gessi, Marco M; Sucker, Antje A; Möller, Inga I; Stiller, Mathias M; Horn, Susanne S; Scholz, Simone L SL; Pischler, Carina C; Stadtler, Nadine N; Schilling, Bastian B; Zimmer, Lisa L; Hillen, Uwe U; Scolyer, Richard A RA; Buckland, Michael E ME; Lauriola, Libero L; Pietsch, Torsten T; Waha, Andreas A; Schadendorf, Dirk D; Murali, Rajmohan R; Griewank, Klaus G KG
Publication Date: 2016-05

Variant appearance in text: IDH1: V178I
PubMed Link: 26744134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs34218846
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS).

Plos One
Gao, Chuan C; Wang, Nan N; Guo, Xiuqing X; Ziegler, Julie T JT; Taylor, Kent D KD; Xiang, Anny H AH; Hai, Yang Y; Kridel, Steven J SJ; Nadler, Jerry L JL; Kandeel, Fouad F; Raffel, Leslie J LJ; Chen, Yii-Der I YD; Norris, Jill M JM; Rotter, Jerome I JI; Watanabe, Richard M RM; Wagenknecht, Lynne E LE; Bowden, Donald W DW; Speliotes, Elizabeth K EK; Goodarzi, Mark O MO; Langefeld, Carl D CD; Palmer, Nicholette D ND
Publication Date: 2015

Variant appearance in text: IDH1: V178I; rs34218846
PubMed Link: 26599207
Variant Present in the following documents:
  • Main text
  • pone.0134649.pdf
View BVdb publication page