Publications:

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A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid Neoplasms.

Cancer Research Communications

Shen, Qiujin Q; Feng, Yahui Y; Gong, Xiaowen X; Jia, Yujiao Y; Gao, Qingyan Q; Jiao, Xiaokang X; Qi, Saibing S; Liu, Xueou X; Wei, Hui H; Huang, Bingqing B; Zhao, Ningning N; Song, Xiaoqiang X; Ma, Yueshen Y; Liang, Shihao S; Zhang, Donglei D; Qin, Li L; Wang, Ying Y; Qu, Shiqiang S; Zou, Yao Y; Chen, Yumei Y; Guo, Ye Y; Yi, Shuhua S; An, Gang G; Jiao, Zengtao Z; Zhang, Song S; Li, Linfeng L; Yan, Jun J; Wang, Huijun H; Song, Zhen Z; Mi, Yingchang Y; Qiu, Lugui L; Zhu, Xiaofan X; Wang, Jianxiang J; Xiao, Zhijian Z; Chen, Junren J

Publication Date: 2022-04

Variant appearance in text: NOTCH1: 4721T>C; L1574P

PubMed Link: 36873623

Variant Present in the following documents:

• crc-21-0194-s05.xlsx, sheet 1

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: 4721T>C; L1574P

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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Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ

Publication Date: 2022-12-06

Variant appearance in text: NOTCH1: 4721T>C; L1574P

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.xlsx, sheet 1

View BVdb publication page

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Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Cancer Communications (London, England)

Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z

Publication Date: 2022-10-20

Variant appearance in text: NOTCH1: 4721T>C; L1574P

PubMed Link: 36264285

Variant Present in the following documents:

• CAC2-42-1367-s002.xlsx, sheet 3

View BVdb publication page

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Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Leukemia

Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Bornhauser, Beat B; Frismantas, Viktoras V; Assenov, Yassen Y; Zimmermann, Martin M; Happich, Margit M; von Knebel-Doeberitz, Caroline C; von Neuhoff, Nils N; Köhler, Rolf R; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Avigad, Smadar S; Pfister, Stefan M SM; Muckenthaler, Martina U MU; Bourquin, Jean-Pierre JP; Korbel, Jan O JO; Kulozik, Andreas E AE

Publication Date: 2022-07

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 35585141

Variant Present in the following documents:

• 41375_2022_1587_MOESM1_ESM.xlsx, sheet 1

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: L1574P

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10

View BVdb publication page

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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: 4721T>C; L1574P

PubMed Link: 35411095

Variant Present in the following documents:

• NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1

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: L1574P

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 2

View BVdb publication page

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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Blood Cancer Discovery

Umeda, Masayuki M; Ma, Jing J; Huang, Benjamin J BJ; Hagiwara, Kohei K; Westover, Tamara T; Abdelhamed, Sherif S; Barajas, Juan M JM; Thomas, Melvin E ME; Walsh, Michael P MP; Song, Guangchun G; Tian, Liqing L; Liu, Yanling Y; Chen, Xiaolong X; Kolekar, Pandurang P; Tran, Quang Q; Foy, Scott G SG; Maciaszek, Jamie L JL; Kleist, Andrew B AB; Leonti, Amanda R AR; Ju, Bengsheng B; Easton, John J; Wu, Huiyun H; Valentine, Virginia V; Valentine, Marcus B MB; Liu, Yen-Chun YC; Ries, Rhonda E RE; Smith, Jenny L JL; Parganas, Evan E; Iacobucci, Ilaria I; Hiltenbrand, Ryan R; Miller, Jonathan J; Myers, Jason R JR; Rampersaud, Evadnie E; Rahbarinia, Delaram D; Rusch, Michael M; Wu, Gang G; Inaba, Hiroto H; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Downing, James R JR; Mullighan, Charles G CG; Pounds, Stanley S; Babu, M Madan MM; Zhang, Jinghui J; Rubnitz, Jeffrey E JE; Meshinchi, Soheil S; Ma, Xiaotu X; Klco, Jeffery M JM

Publication Date: 2022-05-05

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 35176137

Variant Present in the following documents:

• bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 18

View BVdb publication page

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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: L1574P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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PSEN1-selective gamma-secretase inhibition in combination with kinase or XPO-1 inhibitors effectively targets T cell acute lymphoblastic leukemia.

Journal Of Hematology & Oncology

Govaerts, Inge I; Prieto, Cristina C; Vandersmissen, Charlien C; Gielen, Olga O; Jacobs, Kris K; Provost, Sarah S; Nittner, David D; Maertens, Johan J; Boeckx, Nancy N; De Keersmaecker, Kim K; Segers, Heidi H; Cools, Jan J

Publication Date: 2021-06-24

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 34167562

Variant Present in the following documents:

• 13045_2021_1114_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Auer rods in mixed phenotype acute leukemia, T/myeloid: A report of three cases.

Leukemia Research Reports

Li, Yan Y; Yang, Wenrui W; Wang, Wei W; Lin, Dong D; Wei, Hui H; Wang, Ying Y; Liu, Bingcheng B; Wang, Huijun H; Xiao, Jigang J; Ru, Yongxin Y; Dong, Shuxu S; Wang, Jianxiang J; Mi, Yingchang Y

Publication Date: 2021

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 33665079

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies.

Mediterranean Journal Of Hematology And Infectious Diseases

Atli, Emine Ikbal EI; Gurkan, Hakan H; Atli, Engin E; Kirkizlar, Hakki Onur HO; Yalcintepe, Sinem S; Demir, Selma S; Demirci, Ufuk U; Eker, Damla D; Mail, Cisem C; Kalkan, Rasime R; Demir, Ahmet Muzaffer AM

Publication Date: 2021

Variant appearance in text: NOTCH1: 4721T>C

PubMed Link: 33489052

Variant Present in the following documents:

• mjhid-13-1-e2021013.pdf

View BVdb publication page

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The evolution of relapse of adult T cell acute lymphoblastic leukemia.

Genome Biology

Sentís, Inés I; Gonzalez, Santiago S; Genescà, Eulalia E; García-Hernández, Violeta V; Muiños, Ferran F; Gonzalez, Celia C; López-Arribillaga, Erika E; Gonzalez, Jessica J; Fernandez-Ibarrondo, Lierni L; Mularoni, Loris L; Espinosa, Lluís L; Bellosillo, Beatriz B; Ribera, Josep-Maria JM; Bigas, Anna A; Gonzalez-Perez, Abel A; Lopez-Bigas, Nuria N

Publication Date: 2020-11-23

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 33225950

Variant Present in the following documents:

• 13059_2020_2192_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

View BVdb publication page

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Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Cancer Science

Yasuda, Takahiko T; Sanada, Masashi M; Nishijima, Dai D; Kanamori, Takashi T; Iijima, Yuka Y; Hattori, Hiroyoshi H; Saito, Akiko A; Miyoshi, Hiroaki H; Ishikawa, Yuichi Y; Asou, Norio N; Usuki, Kensuke K; Hirabayashi, Shinsuke S; Kato, Motohiro M; Ri, Masaki M; Handa, Hiroshi H; Ishida, Tadao T; Shibayama, Hirohiko H; Abe, Masahiro M; Iriyama, Chisako C; Karube, Kennosuke K; Nishikori, Momoko M; Ohshima, Koichi K; Kataoka, Keisuke K; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Goto, Hiroaki H; Adachi, Souichi S; Kobayashi, Ryoji R; Kiyoi, Hitoshi H; Miyazaki, Yasushi Y; Ogawa, Seishi S; Kurahashi, Hiroki H; Yokoyama, Hisayuki H; Manabe, Atsushi A; Iida, Shinsuke S; Tomita, Akihiro A; Horibe, Keizo K

Publication Date: 2020-09

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 32619037

Variant Present in the following documents:

• CAS-111-3367-s004.xlsx, sheet 4

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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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: L1574P

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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: 4721T>C; L1574P

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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Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Plos One

Pouliot, Gayle P GP; Degar, James J; Hinze, Laura L; Kochupurakkal, Bose B; Vo, Chau D CD; Burns, Melissa A MA; Moreau, Lisa L; Ganesa, Chirag C; Roderick, Justine J; Peirs, Sofie S; Menten, Bjorn B; Loh, Mignon L ML; Hunger, Stephen P SP; Silverman, Lewis B LB; Harris, Marian H MH; Stevenson, Kristen E KE; Weinstock, David M DM; Weng, Andrew P AP; Van Vlierberghe, Pieter P; D'Andrea, Alan D AD; Gutierrez, Alejandro A

Publication Date: 2019

Variant appearance in text: NOTCH1: 4721T>C; L1574P

PubMed Link: 31721781

Variant Present in the following documents:

• pone.0221288.s012.xlsx, sheet 1
• pone.0221288.s010.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: NOTCH1: Leu1574Pro

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

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: 4721T>C; L1574P

PubMed Link: 30404791

Variant Present in the following documents:

• JEM_20180570_TableS4.xlsx, sheet 1

View BVdb publication page

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PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia.

Embo Molecular Medicine

Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Bornhauser, Beat B; von Knebel Doeberitz, Caroline C; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Assenov, Yassen Y; Frismantas, Viktoras V; Marovca, Blerim B; Waszak, Sebastian M SM; Zimmermann, Martin M; Seemann, Julia J; Happich, Margit M; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Bakharevich, Kseniya K; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Muckenthaler, Martina U MU; Korbel, Jan O JO; Bourquin, Jean-Pierre JP; Kulozik, Andreas E AE

Publication Date: 2018-12

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 30389682

Variant Present in the following documents:

• EMMM-10-e9443-s004.xlsx, sheet 2

View BVdb publication page

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NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Cancer Science

Kimura, Shunsuke S; Seki, Masafumi M; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Akiyama, Masaharu M; Koh, Katsuyoshi K; Imamura, Toshihiko T; Manabe, Atsushi A; Hayashi, Yasuhide Y; Kobayashi, Masao M; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J

Publication Date: 2019-02

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 30387229

Variant Present in the following documents:

• CAS-110-784-s012.xlsx, sheet 1

View BVdb publication page

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Integrative genomic analysis of adult mixed phenotype acute leukemia delineates lineage associated molecular subtypes.

Nature Communications

Takahashi, Koichi K; Wang, Feng F; Morita, Kiyomi K; Yan, Yuanqing Y; Hu, Peter P; Zhao, Pei P; Zhar, Abdallah Abou AA; Wu, Chang Jiun CJ; Gumbs, Curtis C; Little, Latasha L; Tippen, Samantha S; Thornton, Rebecca R; Coyle, Marcus M; Mendoza, Marisela M; Thompson, Erika E; Zhang, Jianhua J; DiNardo, Courtney D CD; Jain, Nitin N; Ravandi, Farhad F; Cortes, Jorge E JE; Garcia-Manero, Guillermo G; Kornblau, Steven S; Andreeff, Michael M; Jabbour, Elias E; Bueso-Ramos, Carlos C; Takaori-Kondo, Akifumi A; Konopleva, Marina M; Patel, Keyur K; Kantarjian, Hagop H; Futreal, P Andrew PA

Publication Date: 2018-07-10

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 29991687

Variant Present in the following documents:

• 41467_2018_4924_MOESM1_ESM.pdf

View BVdb publication page

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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: 4721T>C; L1574P

PubMed Link: 29296210

Variant Present in the following documents:

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: 4721T>C; Leu1574Pro

PubMed Link: 28505169

Variant Present in the following documents:

• pone.0177524.s005.xlsx, sheet 1
• pone.0177524.s006.xlsx, sheet 1

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: L1574P

PubMed Link: 28157215

Variant Present in the following documents:

• bcj20173x11.xlsx, sheet 1

View BVdb publication page

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Technical Insights into Highly Sensitive Isolation and Molecular Characterization of Fixed and Live Circulating Tumor Cells for Early Detection of Tumor Invasion.

Plos One

Laget, Sophie S; Broncy, Lucile L; Hormigos, Katia K; Dhingra, Dalia M DM; BenMohamed, Fatima F; Capiod, Thierry T; Osteras, Magne M; Farinelli, Laurent L; Jackson, Stephen S; Paterlini-Bréchot, Patrizia P

Publication Date: 2017

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 28060956

Variant Present in the following documents:

• Main text
• pone.0169427.pdf

View BVdb publication page

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IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study.

Plos Medicine

Li, Yunlei Y; Buijs-Gladdines, Jessica G C A M JG; Canté-Barrett, Kirsten K; Stubbs, Andrew P AP; Vroegindeweij, Eric M EM; Smits, Willem K WK; van Marion, Ronald R; Dinjens, Winand N M WN; Horstmann, Martin M; Kuiper, Roland P RP; Buijsman, Rogier C RC; Zaman, Guido J R GJ; van der Spek, Peter J PJ; Pieters, Rob R; Meijerink, Jules P P JP

Publication Date: 2016-12

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 27997540

Variant Present in the following documents:

• pmed.1002200.s012.xlsx, sheet 3

View BVdb publication page

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Novel dynamin 2 mutations in adult T-cell acute lymphoblastic leukemia.

Oncology Letters

Ge, Zheng Z; Li, Min M; Zhao, Gang G; Xiao, Lichan L; Gu, Yan Y; Zhou, Xilian X; Yu, Michael D MD; Li, Jianyong J; Dovat, Sinisa S; Song, Chunhua C

Publication Date: 2016-10

Variant appearance in text: NOTCH1: 4721T>C; L1574P

PubMed Link: 27698851

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L1574P

PubMed Link: 27602765

Variant Present in the following documents:

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

View BVdb publication page

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Co-existence of PHF6 and NOTCH1 mutations in adult T-cell acute lymphoblastic leukemia.

Oncology Letters

Li, Min M; Xiao, Lichan L; Xu, Jingyan J; Zhang, Run R; Guo, Jingjing J; Olson, Justin J; Wu, Yujie Y; Li, Jianyong J; Song, Chunhua C; Ge, Zheng Z

Publication Date: 2016-07

Variant appearance in text: NOTCH1: 4721T>C; L1574P

PubMed Link: 27347093

Variant Present in the following documents:

• Main text
• ol-12-01-0016.pdf

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Integrated digital error suppression for improved detection of circulating tumor DNA.

Nature Biotechnology

Newman, Aaron M AM; Lovejoy, Alexander F AF; Klass, Daniel M DM; Kurtz, David M DM; Chabon, Jacob J JJ; Scherer, Florian F; Stehr, Henning H; Liu, Chih Long CL; Bratman, Scott V SV; Say, Carmen C; Zhou, Li L; Carter, Justin N JN; West, Robert B RB; Sledge, George W GW; Shrager, Joseph B JB; Loo, Billy W BW; Neal, Joel W JW; Wakelee, Heather A HA; Diehn, Maximilian M; Alizadeh, Ash A AA

Publication Date: 2016-05

Variant appearance in text: NOTCH1: 4721T>C; L1574P

PubMed Link: 27018799

Variant Present in the following documents:

• NIHMS764326-supplement-6.xlsx, sheet 1

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Characterization of LEF1 High Expression and Novel Mutations in Adult Acute Lymphoblastic Leukemia.

Plos One

Guo, Xing X; Zhang, Run R; Liu, Juan J; Li, Min M; Song, Chunhua C; Dovat, Sinisa S; Li, Jianyong J; Ge, Zheng Z

Publication Date: 2015

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 25942645

Variant Present in the following documents:

• Main text
• pone.0125429.pdf

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Frequency and distribution of Notch mutations in tumor cell lines.

Bmc Cancer

Mutvei, Anders Peter AP; Fredlund, Erik E; Lendahl, Urban U

Publication Date: 2015-04-25

Variant appearance in text: NOTCH1: 4721T>C; L1574P

PubMed Link: 25907971

Variant Present in the following documents:

• 12885_2015_1278_MOESM2_ESM.xlsx, sheet 1

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A NOTCH1-driven MYC enhancer promotes T cell development, transformation and acute lymphoblastic leukemia.

Nature Medicine

Herranz, Daniel D; Ambesi-Impiombato, Alberto A; Palomero, Teresa T; Schnell, Stephanie A SA; Belver, Laura L; Wendorff, Agnieszka A AA; Xu, Luyao L; Castillo-Martin, Mireia M; Llobet-Navás, David D; Cordon-Cardo, Carlos C; Clappier, Emmanuelle E; Soulier, Jean J; Ferrando, Adolfo A AA

Publication Date: 2014-10

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 25194570

Variant Present in the following documents:

• NIHMS616061-supplement-1.pdf

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Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry.

Plos One

Kluk, Michael J MJ; Ashworth, Todd T; Wang, Hongfang H; Knoechel, Birgit B; Mason, Emily F EF; Morgan, Elizabeth A EA; Dorfman, David D; Pinkus, Geraldine G; Weigert, Oliver O; Hornick, Jason L JL; Chirieac, Lucian R LR; Hirsch, Michelle M; Oh, David J DJ; South, Andrew P AP; Leigh, Irene M IM; Pourreyron, Celine C; Cassidy, Andrew J AJ; Deangelo, Daniel J DJ; Weinstock, David M DM; Krop, Ian E IE; Dillon, Deborah D; Brock, Jane E JE; Lazar, Alexander J F AJ; Peto, Myron M; Cho, Raymond J RJ; Stoeck, Alexander A; Haines, Brian B BB; Sathayanrayanan, Sriram S; Rodig, Scott S; Aster, Jon C JC

Publication Date: 2013

Variant appearance in text: NOTCH1: L1574P

PubMed Link: 23825651

Variant Present in the following documents:

• Main text
• pone.0067306.pdf

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NOTCH1 signaling promotes human T-cell acute lymphoblastic leukemia initiating cell regeneration in supportive niches.

Plos One

Ma, Wenxue W; Gutierrez, Alejandro A; Goff, Daniel J DJ; Geron, Ifat I; Sadarangani, Anil A; Jamieson, Christina A M CA; Court, Angela C AC; Shih, Alice Y AY; Jiang, Qingfei Q; Wu, Christina C CC; Li, Kang K; Smith, Kristen M KM; Crews, Leslie A LA; Gibson, Neil W NW; Deichaite, Ida I; Morris, Sheldon R SR; Wei, Ping P; Carson, Dennis A DA; Look, A Thomas AT; Jamieson, Catriona H M CH

Publication Date: 2012

Variant appearance in text: NOTCH1: Leu1574Pro

PubMed Link: 22768113

Variant Present in the following documents:

• Main text
• pone.0039725.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: L1574P

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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