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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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