Publications:

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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: 7507C>T; Q2503X

PubMed Link: 36739388

Variant Present in the following documents:

• 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1

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Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications

Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G

Publication Date: 2022-07-06

Variant appearance in text: NOTCH1: 7507C>T; Q2503*

PubMed Link: 35794096

Variant Present in the following documents:

• 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2

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Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients.

Scientific Reports

Shin, Sang-Yong SY; Lee, Hyeonah H; Lee, Seung-Tae ST; Choi, Jong Rak JR; Jung, Chul Won CW; Koo, Hong Hoe HH; Kim, Sun-Hee SH

Publication Date: 2021-04-26

Variant appearance in text: NOTCH1: Gln2503Ter

PubMed Link: 33903686

Variant Present in the following documents:

• Main text

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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: Q2503*

PubMed Link: 33426772

Variant Present in the following documents:

• CAS-112-1300-s002.xlsx, sheet 4

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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: Q2503*

PubMed Link: 33121237

Variant Present in the following documents:

• 2020_261891_POZZO_SUPPL.pdf

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First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia.

Annals Of Laboratory Medicine

Seol, Chang Ahn CA; Cho, Young Uk YU; Jang, Seongsoo S; Park, Chan Jeoung CJ; Lee, Jung Hee JH; Seo, Eul Ju EJ

Publication Date: 2020-01

Variant appearance in text: NOTCH1: Q2503*

PubMed Link: 31432644

Variant Present in the following documents:

• Main text
• alm-40-76.pdf

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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: Q2503*

PubMed Link: 29998084

Variant Present in the following documents:

• Main text
• fonc-08-00229.pdf

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Somatic CLL mutations occur at multiple distinct hematopoietic maturation stages: documentation and cautionary note regarding cell fraction purity.

Leukemia

Marsilio, S S; Khiabanian, H H; Fabbri, G G; Vergani, S S; Scuoppo, C C; Montserrat, E E; Shpall, E J EJ; Hadigol, M M; Marin, P P; Rai, K R KR; Rabadan, R R; Devereux, S S; Pasqualucci, L L; Chiorazzi, N N

Publication Date: 2018-04

Variant appearance in text: NOTCH1: Q2503*

PubMed Link: 29203856

Variant Present in the following documents:

• leu2017343x8.xlsx, sheet 2

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Diffuse Staining for Activated NOTCH1 Correlates With NOTCH1 Mutation Status and Is Associated With Worse Outcome in Adenoid Cystic Carcinoma.

The American Journal Of Surgical Pathology

Sajed, Dipti P DP; Faquin, William C WC; Carey, Chris C; Severson, Eric A EA; H Afrogheh, Amir A; A Johnson, Carl C; Blacklow, Stephen C SC; Chau, Nicole G NG; Lin, Derrick T DT; Krane, Jeffrey F JF; Jo, Vickie Y VY; Garcia, Joaquín J JJ; Sholl, Lynette M LM; Aster, Jon C JC

Publication Date: 2017-11

Variant appearance in text: NOTCH1: 7507C>T; Q2503*

PubMed Link: 28914715

Variant Present in the following documents:

• Main text

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Expression of circulating miRNAs associated with lymphocyte differentiation and activation in CLL-another piece in the puzzle.

Annals Of Hematology

Filip, Agata A AA; Grenda, Anna A; Popek, Sylwia S; Koczkodaj, Dorota D; Michalak-Wojnowska, Małgorzata M; Budzyński, Michał M; Wąsik-Szczepanek, Ewa E; Zmorzyński, Szymon S; Karczmarczyk, Agnieszka A; Giannopoulos, Krzysztof K

Publication Date: 2017-01

Variant appearance in text: NOTCH1: 7507C>T

PubMed Link: 27730344

Variant Present in the following documents:

• Main text
• 277_2016_Article_2840.pdf

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Prognostic signature and clonality pattern of recurrently mutated genes in inactive chronic lymphocytic leukemia.

Blood Cancer Journal

Hurtado, A M AM; Chen-Liang, T-H TH; Przychodzen, B B; Hamedi, C C; Muñoz-Ballester, J J; Dienes, B B; García-Malo, M D MD; Antón, A I AI; de Arriba, F F; Teruel-Montoya, R R; Ortuño, F J FJ; Vicente, V V; Maciejewski, J P JP; Jerez, A A

Publication Date: 2015-08-28

Variant appearance in text: NOTCH1: Q2503X

PubMed Link: 26314984

Variant Present in the following documents:

• bcj201565x1.xls, sheet 1

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Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.

Nature

Puente, Xose S XS; Pinyol, Magda M; Quesada, Víctor V; Conde, Laura L; Ordóñez, Gonzalo R GR; Villamor, Neus N; Escaramis, Georgia G; Jares, Pedro P; Beà, Sílvia S; González-Díaz, Marcos M; Bassaganyas, Laia L; Baumann, Tycho T; Juan, Manel M; López-Guerra, Mónica M; Colomer, Dolors D; Tubío, José M C JM; López, Cristina C; Navarro, Alba A; Tornador, Cristian C; Aymerich, Marta M; Rozman, María M; Hernández, Jesús M JM; Puente, Diana A DA; Freije, José M P JM; Velasco, Gloria G; Gutiérrez-Fernández, Ana A; Costa, Dolors D; Carrió, Anna A; Guijarro, Sara S; Enjuanes, Anna A; Hernández, Lluís L; Yagüe, Jordi J; Nicolás, Pilar P; Romeo-Casabona, Carlos M CM; Himmelbauer, Heinz H; Castillo, Ester E; Dohm, Juliane C JC; de Sanjosé, Silvia S; Piris, Miguel A MA; de Alava, Enrique E; San Miguel, Jesús J; Royo, Romina R; Gelpí, Josep L JL; Torrents, David D; Orozco, Modesto M; Pisano, David G DG; Valencia, Alfonso A; Guigó, Roderic R; Bayés, Mónica M; Heath, Simon S; Gut, Marta M; Klatt, Peter P; Marshall, John J; Raine, Keiran K; Stebbings, Lucy A LA; Futreal, P Andrew PA; Stratton, Michael R MR; Campbell, Peter J PJ; Gut, Ivo I; López-Guillermo, Armando A; Estivill, Xavier X; Montserrat, Emili E; López-Otín, Carlos C; Campo, Elías E

Publication Date: 2011-06-05

Variant appearance in text: NOTCH1: Q2503*

PubMed Link: 21642962

Variant Present in the following documents:

• Main text

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The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Leukemia

Larson Gedman, A A; Chen, Q Q; Kugel Desmoulin, S S; Ge, Y Y; LaFiura, K K; Haska, C L CL; Cherian, C C; Devidas, M M; Linda, S B SB; Taub, J W JW; Matherly, L H LH

Publication Date: 2009-08

Variant appearance in text: NOTCH1: Q2503*

PubMed Link: 19340001

Variant Present in the following documents:

• Main text
• nihms98506.pdf

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