Publications:

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Genomic Landscape of Primary Resistance to Osimertinib Among Hispanic Patients with EGFR-Mutant Non-Small Cell Lung Cancer (NSCLC): Results of an Observational Longitudinal Cohort Study.

Targeted Oncology

Chamorro, Diego F DF; Cardona, Andrés F AF; Rodríguez, July J; Ruiz-Patiño, Alejandro A; Arrieta, Oscar O; Moreno-Pérez, Darwin A DA; Rojas, Leonardo L; Zatarain-Barrón, Zyanya Lucia ZL; Ardila, Dora V DV; Viola, Lucia L; Recondo, Gonzalo G; Blaquier, Juan B JB; Martín, Claudio C; Raez, Luis L; Samtani, Suraj S; Ordóñez-Reyes, Camila C; Garcia-Robledo, Juan Esteban JE; Corrales, Luis L; Sotelo, Carolina C; Ricaurte, Luisa L; Cuello, Mauricio M; Mejía, Sergio S; Jaller, Elvira E; Vargas, Carlos C; Carranza, Hernán H; Otero, Jorge J; Archila, Pilar P; Bermudez, Maritza M; Gamez, Tatiana T; Russo, Alessandro A; Malapelle, Umberto U; de Miguel Perez, Diego D; de Lima, Vladmir C Cordeiro VCC; Freitas, Helano H; Saldahna, Erick E; Rolfo, Christian C; Rosell, Rafael R; ,

Publication Date: 2023-04-05

Variant appearance in text: NOTCH1: Q2459*

PubMed Link: 37017806

Variant Present in the following documents:

• 11523_2023_955_MOESM1_ESM.pdf

View BVdb publication page

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Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics

Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y

Publication Date: 2023-02-04

Variant appearance in text: NOTCH1: 7375C>T; Q2459X

PubMed Link: 36739388

Variant Present in the following documents:

• 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular profiling of EBV associated diffuse large B-cell lymphoma.

Leukemia

Frontzek, Fabian F; Staiger, Annette M AM; Wullenkord, Ramona R; Grau, Michael M; Zapukhlyak, Myroslav M; Kurz, Katrin S KS; Horn, Heike H; Erdmann, Tabea T; Fend, Falko F; Richter, Julia J; Klapper, Wolfram W; Lenz, Peter P; Hailfinger, Stephan S; Tasidou, Anna A; Trautmann, Marcel M; Hartmann, Wolfgang W; Rosenwald, Andreas A; Quintanilla-Martinez, Leticia L; Ott, German G; Anagnostopoulos, Ioannis I; Lenz, Georg G

Publication Date: 2023-01-05

Variant appearance in text: NOTCH1: Q2459*

PubMed Link: 36604606

Variant Present in the following documents:

• 41375_2022_Article_1804.pdf

View BVdb publication page

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Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: NOTCH1: Q2459X

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10

View BVdb publication page

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Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)

Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H

Publication Date: 2022-01

Variant appearance in text: NOTCH1: Q2459*

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 2

View BVdb publication page

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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics

Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M

Publication Date: 2021-12-14

Variant appearance in text: NOTCH1: Q2459*

PubMed Link: 34906245

Variant Present in the following documents:

• 40246_2021_371_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics

Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M

Publication Date: 2021-12-14

Variant appearance in text: NOTCH1: Q2459*

PubMed Link: 34906245

Variant Present in the following documents:

• 40246_2021_371_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances

Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D

Publication Date: 2021-11-23

Variant appearance in text: NOTCH1: 7375C>T; Q2459*

PubMed Link: 34500472

Variant Present in the following documents:

• advancesADV2021004528-suppl2.xlsx, sheet 7

View BVdb publication page

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Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances

Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D

Publication Date: 2021-11-23

Variant appearance in text: NOTCH1: 7375C>T; Q2459*

PubMed Link: 34500472

Variant Present in the following documents:

• advancesADV2021004528-suppl2.xlsx, sheet 7

View BVdb publication page

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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: NOTCH1: Q2459X

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Scientific Reports

Chang, Ya-Hsuan YH; Yu, Chih-Hsiang CH; Jou, Shiann-Tarng ST; Lin, Chien-Yu CY; Lin, Kai-Hsin KH; Lu, Meng-Yao MY; Wu, Kang-Hsi KH; Chang, Hsiu-Hao HH; Lin, Dong-Tsamn DT; Lin, Shu-Wha SW; Chen, Hsuan-Yu HY; Yang, Yung-Li YL

Publication Date: 2021-01-12

Variant appearance in text: NOTCH1: Q2459X

PubMed Link: 33436855

Variant Present in the following documents:

• 41598_2020_80613_MOESM1_ESM.pdf

View BVdb publication page

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Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Cancer Science

Sakihama, Shugo S; Morichika, Kazuho K; Saito, Rumiko R; Miyara, Megumi M; Miyagi, Takashi T; Hayashi, Masaki M; Uchihara, Junnosuke J; Tomoyose, Takeaki T; Ohshiro, Kazuiku K; Nakayama, Shingo S; Nakachi, Sawako S; Morishima, Satoko S; Sakai, Kazuko K; Nishio, Kazuto K; Masuzaki, Hiroaki H; Fukushima, Takuya T; Karube, Kennosuke K

Publication Date: 2021-03

Variant appearance in text: NOTCH1: Q2459*

PubMed Link: 33426772

Variant Present in the following documents:

• CAS-112-1300-s002.xlsx, sheet 4

View BVdb publication page

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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: NOTCH1: 7375C>T; Q2459*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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<i>SF3B1</i>-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica

Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Vit, Filippo F; Vendramini, Elena E; Laurenti, Luca L; D'Arena, Giovanni G; Olivieri, Jacopo J; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Zucchetto, Antonella A; Bomben, Riccardo R; Rossi, Francesca Maria FM; Del Poeta, Giovanni G; Dal Bo, Michele M; Gattei, Valter V

Publication Date: 2021-12-01

Variant appearance in text: NOTCH1: Q2459*

PubMed Link: 33121237

Variant Present in the following documents:

• 2020_261891_POZZO_SUPPL.pdf

View BVdb publication page

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Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: NOTCH1: Q2459X

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: NOTCH1: 7375C>T; Q2459*

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Disruption of gap junctions attenuates acute myeloid leukemia chemoresistance induced by bone marrow mesenchymal stromal cells.

Oncogene

Kouzi, Farah F; Zibara, Kazem K; Bourgeais, Jerome J; Picou, Frederic F; Gallay, Nathalie N; Brossaud, Julie J; Dakik, Hassan H; Roux, Benjamin B; Hamard, Sophie S; Le Nail, Louis-Romee LR; Hleihel, Rita R; Foucault, Amelie A; Ravalet, Noemie N; Rouleux-Bonnin, Florence F; Gouilleux, Fabrice F; Mazurier, Frederic F; Bene, Marie C MC; Akl, Haidar H; Gyan, Emmanuel E; Domenech, Jorge J; El-Sabban, Marwan M; Herault, Olivier O

Publication Date: 2020-02

Variant appearance in text: NOTCH1: Gln2459*

PubMed Link: 31649334

Variant Present in the following documents:

• 41388_2019_1069_MOESM3_ESM.pdf

View BVdb publication page

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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: NOTCH1: Gln2459*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Frontiers In Oncology

Rosati, Emanuela E; Baldoni, Stefano S; De Falco, Filomena F; Del Papa, Beatrice B; Dorillo, Erica E; Rompietti, Chiara C; Albi, Elisa E; Falzetti, Franca F; Di Ianni, Mauro M; Sportoletti, Paolo P

Publication Date: 2018

Variant appearance in text: NOTCH1: Q2459*

PubMed Link: 29998084

Variant Present in the following documents:

• Main text
• fonc-08-00229.pdf

View BVdb publication page

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The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Nature Communications

Landau, Dan A DA; Sun, Clare C; Rosebrock, Daniel D; Herman, Sarah E M SEM; Fein, Joshua J; Sivina, Mariela M; Underbayev, Chingiz C; Liu, Delong D; Hoellenriegel, Julia J; Ravichandran, Sarangan S; Farooqui, Mohammed Z H MZH; Zhang, Wandi W; Cibulskis, Carrie C; Zviran, Asaf A; Neuberg, Donna S DS; Livitz, Dimitri D; Bozic, Ivana I; Leshchiner, Ignaty I; Getz, Gad G; Burger, Jan A JA; Wiestner, Adrian A; Wu, Catherine J CJ

Publication Date: 2017-12-19

Variant appearance in text: NOTCH1: 7375C>T; Q2459*

PubMed Link: 29259203

Variant Present in the following documents:

• 41467_2017_Article_2329.pdf
• 41467_2017_2329_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular basis of targeted therapy in T/NK-cell lymphoma/leukemia: A comprehensive genomic and immunohistochemical analysis of a panel of 33 cell lines.

Plos One

Mondejar, Rufino R; Pérez, Cristina C; Onaindia, Arantza A; Martinez, Nerea N; González-Rincón, Julia J; Pisonero, Helena H; Vaqué, Jose Pedro JP; Cereceda, Laura L; Santibañez, Miguel M; Sánchez-Beato, Margarita M; Piris, Miguel Angel MA

Publication Date: 2017

Variant appearance in text: NOTCH1: 7375C>T; Gln2459X

PubMed Link: 28505169

Variant Present in the following documents:

• pone.0177524.s005.xlsx, sheet 1

View BVdb publication page

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An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness.

Oncotarget

Rigolin, Gian Matteo GM; Formigaro, Luca L; Cavallari, Maurizio M; Quaglia, Francesca Maria FM; Lista, Enrico E; Urso, Antonio A; Guardalben, Emanuele E; Martinelli, Sara S; Saccenti, Elena E; Bassi, Cristian C; Lupini, Laura L; Bardi, Maria Antonella MA; Volta, Eleonora E; Tammiso, Elisa E; Melandri, Aurora A; Negrini, Massimo M; Cavazzini, Francesco F; Cuneo, Antonio A

Publication Date: 2017-04-25

Variant appearance in text: NOTCH1: Q2459X

PubMed Link: 28427204

Variant Present in the following documents:

• oncotarget-08-28008-s003.xlsx, sheet 1

View BVdb publication page

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Distinct molecular genetics of chronic lymphocytic leukemia in Taiwan: clinical and pathogenetic implications.

Haematologica

Wu, Shang-Ju SJ; Lin, Chien-Ting CT; Agathangelidis, Andreas A; Lin, Liang-In LI; Kuo, Yuan-Yeh YY; Tien, Hwei-Fang HF; Ghia, Paolo P

Publication Date: 2017-06

Variant appearance in text: NOTCH1: Q2459X

PubMed Link: 28255015

Variant Present in the following documents:

• 2016.157552.WU_SUPPL.pdf

View BVdb publication page

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Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Blood Cancer Journal

Richter-Pechańska, P P; Kunz, J B JB; Hof, J J; Zimmermann, M M; Rausch, T T; Bandapalli, O R OR; Orlova, E E; Scapinello, G G; Sagi, J C JC; Stanulla, M M; Schrappe, M M; Cario, G G; Kirschner-Schwabe, R R; Eckert, C C; Benes, V V; Korbel, J O JO; Muckenthaler, M U MU; Kulozik, A E AE

Publication Date: 2017-02-03

Variant appearance in text: NOTCH1: Q2459X

PubMed Link: 28157215

Variant Present in the following documents:

• bcj20173x11.xlsx, sheet 1

View BVdb publication page

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Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations.

Journal Of Hematology & Oncology

Rigolin, Gian Matteo GM; Saccenti, Elena E; Bassi, Cristian C; Lupini, Laura L; Quaglia, Francesca Maria FM; Cavallari, Maurizio M; Martinelli, Sara S; Formigaro, Luca L; Lista, Enrico E; Bardi, Maria Antonella MA; Volta, Eleonora E; Tammiso, Elisa E; Melandri, Aurora A; Urso, Antonio A; Cavazzini, Francesco F; Negrini, Massimo M; Cuneo, Antonio A

Publication Date: 2016-09-15

Variant appearance in text: NOTCH1: Q2459X

PubMed Link: 27633522

Variant Present in the following documents:

• 13045_2016_320_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NOTCH1: 7375C>T; Q2459*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Frequencies of SF3B1, NOTCH1, MYD88, BIRC3 and IGHV mutations and TP53 disruptions in Chinese with chronic lymphocytic leukemia: disparities with Europeans.

Oncotarget

Xia, Yi Y; Fan, Lei L; Wang, Li L; Gale, Robert Peter RP; Wang, Man M; Tian, Tian T; Wu, Wei W; Yu, Liang L; Chen, Yao-Yu YY; Xu, Wei W; Li, Jian-Yong JY

Publication Date: 2015-03-10

Variant appearance in text: NOTCH1: 7375C>T; Q2459X

PubMed Link: 25605254

Variant Present in the following documents:

• oncotarget-06-5426-s001.pdf

View BVdb publication page

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The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Oncotarget

Athanasakis, Emmanouil E; Melloni, Elisabetta E; Rigolin, Gian Matteo GM; Agnoletto, Chiara C; Voltan, Rebecca R; Vozzi, Diego D; Piscianz, Elisa E; Segat, Ludovica L; Dal Monego, Simeone S; Cuneo, Antonio A; Secchiero, Paola P; Zauli, Giorgio G

Publication Date: 2014-12-30

Variant appearance in text: NOTCH1: 7375C>T; Gln2459*

PubMed Link: 25587027

Variant Present in the following documents:

• Main text

View BVdb publication page

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