Publications:

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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: 419G>A

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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NGS for (Hemato-) Oncology in Belgium: Evaluation of Laboratory Performance and Feasibility of a National External Quality Assessment Program.

Cancers

Delcourt, Thomas T; Vanneste, Kevin K; Soumali, Mohamed Rida MR; Coucke, Wim W; Ghislain, Vanessa V; Hebrant, Aline A; Van Valckenborgh, Els E; De Keersmaecker, Sigrid C J SCJ; Roosens, Nancy H NH; Van De Walle, Philippe P; Van Den Bulcke, Marc M; Antoniou, Aline A

Publication Date: 2020-10-29

Variant appearance in text: IDH1: 419G>A; Arg140Gln

PubMed Link: 33138022

Variant Present in the following documents:

• cancers-12-03180-s001.pdf

View BVdb publication page

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Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype.

Cancers

Heibl, Sonja S; Gisslinger, Bettina B; Jäger, Eva E; Barna, Agnes A; Gurbisz, Michael M; Stegemann, Maike M; Bettelheim, Peter P; Machherndl-Spandl, Sigrid S; Pfeilstöcker, Michael M; Nösslinger, Thomas T; Uyanik, Gökhan G; Hoermann, Gregor G; Stauder, Reinhard R; Thaler, Josef J; Kusec, Rajko R; Valent, Peter P; Gisslinger, Heinz H; Geissler, Klaus K

Publication Date: 2020-07-14

Variant appearance in text: IDH1: 419G>A; Arg140Gln

PubMed Link: 32674283

Variant Present in the following documents:

• cancers-12-01891-s001.pdf

View BVdb publication page

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Digital Droplet PCR is a Specific and Sensitive Tool for Detecting IDH2 Mutations in Acute Myeloid LeuKemia Patients.

Cancers

Grassi, Susanna S; Guerrini, Francesca F; Ciabatti, Elena E; Puccetti, Riccardo R; Salehzadeh, Serena S; Metelli, Maria Rita MR; Di Vita, Alessia A; Domenichini, Cristiana C; Caracciolo, Francesco F; Orciuolo, Enrico E; Pelosini, Matteo M; Mazzantini, Elisa E; Rossi, Pietro P; Mazziotta, Francesco F; Petrini, Mario M; Galimberti, Sara S

Publication Date: 2020-06-30

Variant appearance in text: IDH1: 419G>A; R140Q

PubMed Link: 32629801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: IDH1: 419G>A; R140K

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: IDH1: 419G>A; R140K

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.

Nature Genetics

Stark, Mitchell S MS; Woods, Susan L SL; Gartside, Michael G MG; Bonazzi, Vanessa F VF; Dutton-Regester, Ken K; Aoude, Lauren G LG; Chow, Donald D; Sereduk, Chris C; Niemi, Natalie M NM; Tang, Nanyun N; Ellis, Jonathan J JJ; Reid, Jeffrey J; Zismann, Victoria V; Tyagi, Sonika S; Muzny, Donna D; Newsham, Irene I; Wu, YuanQing Y; Palmer, Jane M JM; Pollak, Thomas T; Youngkin, David D; Brooks, Bradford R BR; Lanagan, Catherine C; Schmidt, Christopher W CW; Kobe, Bostjan B; MacKeigan, Jeffrey P JP; Yin, Hongwei H; Brown, Kevin M KM; Gibbs, Richard R; Trent, Jeffrey J; Hayward, Nicholas K NK

Publication Date: 2011-12-25

Variant appearance in text: IDH1: R140K

PubMed Link: 22197930

Variant Present in the following documents:

• NIHMS340429-supplement-2.xlsx, sheet 1

View BVdb publication page

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Diagnostic testing for IDH1 and IDH2 variants in acute myeloid leukemia an algorithmic approach using high-resolution melting curve analysis.

The Journal Of Molecular Diagnostics : Jmd

Patel, Keyur P KP; Barkoh, Bedia A BA; Chen, Zhao Z; Ma, Deqin D; Reddy, Neelima N; Medeiros, L Jeffrey LJ; Luthra, Rajyalakshmi R

Publication Date: 2011-11

Variant appearance in text: IDH1: 419G>A; R140Q

PubMed Link: 21889610

Variant Present in the following documents:

• Main text

View BVdb publication page

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