NOTCH1 c.4793G>C ;(p.R1598P)

Variant ID: 9-139399350-C-G

NM_017617.3(NOTCH1):c.4793G>C;(p.R1598P)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


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: 4793G>C; R1598P
PubMed Link: 36873623
Variant Present in the following documents:
  • crc-21-0194-s05.xlsx, sheet 1
View BVdb publication page



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: 4793G>C; R1598P
PubMed Link: 36739388
Variant Present in the following documents:
  • 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R1598P
PubMed Link: 35585141
Variant Present in the following documents:
  • 41375_2022_1587_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: R1598P
PubMed Link: 35579198
Variant Present in the following documents:
  • CAS-113-2763-s003.xlsx, sheet 6
View BVdb publication page



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: 4793G>C; R1598P
PubMed Link: 35411095
Variant Present in the following documents:
  • NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



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: R1598P
PubMed Link: 35399540
Variant Present in the following documents:
  • bls-4-16-s005.xlsx, sheet 2
View BVdb publication page



Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Blood Advances
Tran, Thai Hoa TH; Langlois, Sylvie S; Meloche, Caroline C; Caron, Maxime M; Saint-Onge, Pascal P; Rouette, Alexandre A; Bataille, Alain R AR; Jimenez-Cortes, Camille C; Sontag, Thomas T; Bittencourt, Henrique H; Laverdière, Caroline C; Lavallée, Vincent-Philippe VP; Leclerc, Jean-Marie JM; Cole, Peter D PD; Gennarini, Lisa M LM; Kahn, Justine M JM; Kelly, Kara M KM; Michon, Bruno B; Santiago, Raoul R; Stevenson, Kristen E KE; Welch, Jennifer J G JJG; Schroeder, Kaitlin M KM; Koch, Victoria V; Cellot, Sonia S; Silverman, Lewis B LB; Sinnett, Daniel D
Publication Date: 2022-02-22

Variant appearance in text: NOTCH1: R1598P
PubMed Link: 34933343
Variant Present in the following documents:
  • advancesADV2021005634-suppl1.xlsx, sheet 1
  • advancesADV2021005634-suppl1.xlsx, sheet 3
View BVdb publication page



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: R1598P
PubMed Link: 34778799
Variant Present in the following documents:
  • bloodcandisc-2-586-s001.xlsx, sheet 11
View BVdb publication page



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: R1598P
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.

Frontiers In Immunology
Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G
Publication Date: 2021

Variant appearance in text: NOTCH1: 4793G>C; R1598P
PubMed Link: 34552580
Variant Present in the following documents:
  • DataSheet_4.xlsx, sheet 2
View BVdb publication page



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: Arg1598Pro
PubMed Link: 33903686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: NOTCH1: R1598P
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



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: R1598P
PubMed Link: 33436855
Variant Present in the following documents:
  • 41598_2020_80613_MOESM1_ESM.pdf
View BVdb publication page



Small molecule inhibition of Dynamin-dependent endocytosis targets multiple niche signals and impairs leukemia stem cells.

Nature Communications
Tremblay, Cedric S CS; Chiu, Sung Kai SK; Saw, Jesslyn J; McCalmont, Hannah H; Litalien, Veronique V; Boyle, Jacqueline J; Sonderegger, Stefan E SE; Chau, Ngoc N; Evans, Kathryn K; Cerruti, Loretta L; Salmon, Jessica M JM; McCluskey, Adam A; Lock, Richard B RB; Robinson, Phillip J PJ; Jane, Stephen M SM; Curtis, David J DJ
Publication Date: 2020-12-04

Variant appearance in text: NOTCH1: R1598P
PubMed Link: 33277497
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20091.pdf
View BVdb publication page



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: R1598P
PubMed Link: 33225950
Variant Present in the following documents:
  • 13059_2020_2192_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Blockade of Oncogenic NOTCH1 with the SERCA Inhibitor CAD204520 in T Cell Acute Lymphoblastic Leukemia.

Cell Chemical Biology
Marchesini, Matteo M; Gherli, Andrea A; Montanaro, Anna A; Patrizi, Laura L; Sorrentino, Claudia C; Pagliaro, Luca L; Rompietti, Chiara C; Kitara, Samuel S; Heit, Sabine S; Olesen, Claus E CE; Møller, Jesper V JV; Savi, Monia M; Bocchi, Leonardo L; Vilella, Rocchina R; Rizzi, Federica F; Baglione, Marilena M; Rastelli, Giorgia G; Loiacono, Caterina C; La Starza, Roberta R; Mecucci, Cristina C; Stegmaier, Kimberly K; Aversa, Franco F; Stilli, Donatella D; Lund Winther, Anne-Marie AM; Sportoletti, Paolo P; Bublitz, Maike M; Dalby-Brown, William W; Roti, Giovanni G
Publication Date: 2020-06-18

Variant appearance in text: NOTCH1: 4793G>C
PubMed Link: 32386594
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R1598P
PubMed Link: 32164600
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_6709.pdf
View BVdb publication page



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: R1598P
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: NOTCH1: R1598P
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



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: 4793G>C; R1598P
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 4793G>C; R1598P
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



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: Arg1598Pro
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



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: R1598P
PubMed Link: 31475166
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 4793G>C; R1598P
PubMed Link: 30404791
Variant Present in the following documents:
  • JEM_20180570_TableS4.xlsx, sheet 1
View BVdb publication page



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: R1598P
PubMed Link: 30389682
Variant Present in the following documents:
  • EMMM-10-e9443-s004.xlsx, sheet 2
View BVdb publication page



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: R1598P
PubMed Link: 30387229
Variant Present in the following documents:
  • CAS-110-784-s012.xlsx, sheet 1
View BVdb publication page



Clinical outcome and molecular characterisation of chemorefractory metastatic colorectal cancer patients with long-term efficacy of regorafenib treatment.

Esmo Open
Martinelli, Erika E; Sforza, Vincenzo V; Cardone, Claudia C; Capasso, Anna A; Nappi, Anna A; Martini, Giulia G; Napolitano, Stefania S; Rachiglio, Anna Maria AM; Normanno, Nicola N; Cappabianca, Salvatore S; Reginelli, Alfonso A; Bisceglie, Maurizio Di MD; Latiano, Tiziana Pia TP; Maiello, Evaristo E; Orditura, Michele M; De Vita, Fernando F; Morgillo, Floriana F; Ciardiello, Fortunato F; Troiani, Teresa T
Publication Date: 2017

Variant appearance in text: NOTCH1: 4793G>C; R1598P
PubMed Link: 29211816
Variant Present in the following documents:
  • esmoopen-2017-000177supp001.pdf
View BVdb publication page



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: R1598P
PubMed Link: 28157215
Variant Present in the following documents:
  • bcj20173x11.xlsx, sheet 1
View BVdb publication page



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: 4793G>C; R1598P
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Quantitative phosphotyrosine profiling of patient-derived xenografts identifies therapeutic targets in pediatric leukemia.

Cancer Research
Dolai, Sibasish S; Sia, Keith C S KC; Robbins, Alissa K AK; Zhong, Ling L; Heatley, Sue L SL; Vincent, Tiffaney L TL; Hochgräfe, Falko F; Sutton, Rosemary R; Kurmasheva, Raushan T RT; Revesz, Tamas T; White, Deborah L DL; Houghton, Peter J PJ; Smith, Malcolm A MA; Teachey, David T DT; Daly, Roger J RJ; Raftery, Mark J MJ; Lock, Richard B RB
Publication Date: 2016-05

Variant appearance in text: NOTCH1: R1598P
PubMed Link: 26960974
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deep sequencing and SNP array analyses of pediatric T-cell acute lymphoblastic leukemia reveal NOTCH1 mutations in minor subclones and a high incidence of uniparental isodisomies affecting CDKN2A.

Journal Of Hematology & Oncology
Karrman, Kristina K; Castor, Anders A; Behrendtz, Mikael M; Forestier, Erik E; Olsson, Linda L; Ehinger, Mats M; Biloglav, Andrea A; Fioretos, Thoas T; Paulsson, Kajsa K; Johansson, Bertil B
Publication Date: 2015-04-24

Variant appearance in text: NOTCH1: 4793G>C
PubMed Link: 25903014
Variant Present in the following documents:
  • Main text
  • 13045_2015_Article_138.pdf
View BVdb publication page



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: Arg1598Pro
PubMed Link: 22768113
Variant Present in the following documents:
  • Main text
  • pone.0039725.pdf
View BVdb publication page



Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Nicholas J NJ; Sanborn, Zachary Z; Arnett, Kelly L KL; Bayston, Laura J LJ; Liao, Wilson W; Proby, Charlotte M CM; Leigh, Irene M IM; Collisson, Eric A EA; Gordon, Patricia B PB; Jakkula, Lakshmi L; Pennypacker, Sally S; Zou, Yong Y; Sharma, Mimansa M; North, Jeffrey P JP; Vemula, Swapna S SS; Mauro, Theodora M TM; Neuhaus, Isaac M IM; Leboit, Philip E PE; Hur, Joe S JS; Park, Kyunghee K; Huh, Nam N; Kwok, Pui-Yan PY; Arron, Sarah T ST; Massion, Pierre P PP; Bale, Allen E AE; Haussler, David D; Cleaver, James E JE; Gray, Joe W JW; Spellman, Paul T PT; South, Andrew P AP; Aster, Jon C JC; Blacklow, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2011-10-25

Variant appearance in text: NOTCH1: R1598P
PubMed Link: 22006338
Variant Present in the following documents:
  • Main text
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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: R1598P
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
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