Publications:

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JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Leukemia

Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A

Publication Date: 2022-06

Variant appearance in text: NOTCH1: 4847T>A; I1616N

PubMed Link: 35411095

Variant Present in the following documents:

• NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1

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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: I1616N

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 2

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Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Nature Communications

Liu, Ting T; Rao, Jianan J; Hu, Wenting W; Cui, Bowen B; Cai, Jiaoyang J; Liu, Yuhan Y; Sun, Huiying H; Chen, Xiaoxiao X; Tang, Yanjing Y; Chen, Jing J; Wang, Xiang X; Wang, Han H; Qian, Wubin W; Mao, Binchen B; Guo, Sheng S; Wang, Ronghua R; Liu, Yu Y; Shen, Shuhong S

Publication Date: 2022-03-28

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 35347147

Variant Present in the following documents:

• 41467_2022_29336_MOESM7_ESM.xlsx, sheet 1

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Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Blood Cancer Discovery

Fornerod, Maarten M; Ma, Jing J; Noort, Sanne S; Liu, Yu Y; Walsh, Michael P MP; Shi, Lei L; Nance, Stephanie S; Liu, Yanling Y; Wang, Yuanyuan Y; Song, Guangchun G; Lamprecht, Tamara T; Easton, John J; Mulder, Heather L HL; Yergeau, Donald D; Myers, Jacquelyn J; Kamens, Jennifer L JL; Obeng, Esther A EA; Pigazzi, Martina M; Jarosova, Marie M; Kelaidi, Charikleia C; Polychronopoulou, Sophia S; Lamba, Jatinder K JK; Baker, Sharyn D SD; Rubnitz, Jeffrey E JE; Reinhardt, Dirk D; van den Heuvel-Eibrink, Marry M MM; Locatelli, Franco F; Hasle, Henrik H; Klco, Jeffery M JM; Downing, James R JR; Zhang, Jinghui J; Pounds, Stanley S; Zwaan, C Michel CM; Gruber, Tanja A TA; , ; , ; , ; , ; , ; ,

Publication Date: 2021-11

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 34778799

Variant Present in the following documents:

• bloodcandisc-2-586-s001.xlsx, sheet 11

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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: NOTCH1: I1616N

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.xlsx, sheet 1

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Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications

Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM

Publication Date: 2020-11-10

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 33173047

Variant Present in the following documents:

• 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic mutational analysis of pediatric acute lymphoblastic leukemia from a single center in China using exon sequencing.

Bmc Cancer

Zhang, Honghong H; Wang, Hongsheng H; Qian, Xiaowen X; Gao, Shuai S; Xia, Jieqi J; Liu, Junwen J; Cheng, Yanqin Y; Man, Jie J; Zhai, Xiaowen X

Publication Date: 2020-03-12

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 32164600

Variant Present in the following documents:

• Main text
• 12885_2020_Article_6709.pdf

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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: NOTCH1: I1616N

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Genetic variants and clinical significance of pediatric acute lymphoblastic leukemia.

Annals Of Translational Medicine

Zhang, Hong-Hong HH; Wang, Hong-Sheng HS; Qian, Xiao-Wen XW; Fan, Cui-Qing CQ; Li, Jun J; Miao, Hui H; Zhu, Xiao-Hua XH; Yu, Yi Y; Meng, Jian-Hua JH; Cao, Ping P; Le, Jun J; Jiang, Jun-Ye JY; Jiang, Wen-Jing WJ; Wang, Ping P; Zhai, Xiao-Wen XW

Publication Date: 2019-07

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 31475166

Variant Present in the following documents:

• Main text

View BVdb publication page

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PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.

The Journal Of Experimental Medicine

Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A

Publication Date: 2018-12-03

Variant appearance in text: NOTCH1: 4847T>A; I1616N

PubMed Link: 30404791

Variant Present in the following documents:

• JEM_20180570_TableS4.xlsx, sheet 1

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Clinical impact of miR-223 expression in pediatric T-Cell lymphoblastic lymphoma.

Oncotarget

Pomari, Elena E; Lovisa, Federica F; Carraro, Elisa E; Primerano, Simona S; D'Amore, Emanuele S G ESG; Bonvini, Paolo P; Nigro, Luca Lo LL; Vito, Rita De R; Vinti, Luciana L; Farruggia, Piero P; Pillon, Marta M; Basso, Giuseppe G; Basso, Katia K; Mussolin, Lara L

Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: 4847T>A; I1616N

PubMed Link: 29296210

Variant Present in the following documents:

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: I1616N

PubMed Link: 28157215

Variant Present in the following documents:

• bcj20173x11.xlsx, sheet 1

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Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.

Oncotarget

Spinella, Jean-François JF; Cassart, Pauline P; Richer, Chantal C; Saillour, Virginie V; Ouimet, Manon M; Langlois, Sylvie S; St-Onge, Pascal P; Sontag, Thomas T; Healy, Jasmine J; Minden, Mark D MD; Sinnett, Daniel D

Publication Date: 2016-10-04

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 27602765

Variant Present in the following documents:

• oncotarget-07-65485-s004.xlsx, sheet 1

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Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Oncotarget

Lindqvist, C Mårten CM; Lundmark, Anders A; Nordlund, Jessica J; Freyhult, Eva E; Ekman, Diana D; Carlsson Almlöf, Jonas J; Raine, Amanda A; Övernäs, Elin E; Abrahamsson, Jonas J; Frost, Britt-Marie BM; Grandér, Dan D; Heyman, Mats M; Palle, Josefine J; Forestier, Erik E; Lönnerholm, Gudmar G; Berglund, Eva C EC; Syvänen, Ann-Christine AC

Publication Date: 2016-09-27

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 27590521

Variant Present in the following documents:

• oncotarget-07-64071-s002.xlsx, sheet 4

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Discovery and functional characterization of a germline, CSF2RB-activating mutation in leukemia.

Leukemia

Watanabe-Smith, K K; Tognon, C C; Tyner, J W JW; Meijerink, J P P JP; Druker, B J BJ; Agarwal, A A

Publication Date: 2016-09

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 27118405

Variant Present in the following documents:

• NIHMS777047-supplement-1.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: NOTCH1: I1616N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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