NOTCH1 c.4754T>C ;(p.L1585P)

Variant ID: 9-139399389-A-G

NM_017617.3(NOTCH1):c.4754T>C;(p.L1585P)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


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: L1585P
PubMed Link: 35585141
Variant Present in the following documents:
  • 41375_2022_1587_MOESM1_ESM.xlsx, sheet 1
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: 4754T>C; L1585P
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: L1585P
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: L1585P
PubMed Link: 34933343
Variant Present in the following documents:
  • advancesADV2021005634-suppl1.xlsx, sheet 1
  • advancesADV2021005634-suppl1.xlsx, sheet 3
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: NOTCH1: 4754T>C; L1585P
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
  • ct9-12-e00431-s005.xlsx, sheet 1
View BVdb publication page



Either IL-7 activation of JAK-STAT or BEZ inhibition of PI3K-AKT-mTOR pathways dominates the single-cell phosphosignature of ex vivo treated pediatric T-cell acute lymphoblastic leukemia cells.

Haematologica
Kuzilková, Daniela D; Bugarin, Cristina C; Rejlova, Katerina K; Schulz, Axel R AR; Mei, Henrik E HE; Paganin, Maddalena M; Biffi, Alessandra A; Biondi, Andrea A; Kalina, Tomas T; Gaipa, Giuseppe G
Publication Date: 2022-06-01

Variant appearance in text: NOTCH1: L1585P
PubMed Link: 34670357
Variant Present in the following documents:
  • 2021.278796_KUZILKOVA_SUPPL.pdf
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: L1585P
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Mutational profiling in acute lymphoblastic leukemia by RNA sequencing and chromosomal genomic array testing.

Cancer Medicine
Yeung, Cecilia C; Qu, Xiaoyu X; Sala-Torra, Olga O; Woolston, David D; Radich, Jerry J; Fang, Min M
Publication Date: 2021-08

Variant appearance in text: NOTCH1: 4754T>C; Leu1585Pro
PubMed Link: 34288525
Variant Present in the following documents:
  • Main text
  • CAM4-10-5629.pdf
View BVdb publication page



Advances of target therapy on NOTCH1 signaling pathway in T-cell acute lymphoblastic leukemia.

Experimental Hematology & Oncology
Zheng, Ruyue R; Li, Menglin M; Wang, Shujuan S; Liu, Yanfang Y
Publication Date: 2020-11-13

Variant appearance in text: NOTCH1: L1585P
PubMed Link: 33292596
Variant Present in the following documents:
  • Main text
  • 40164_2020_Article_187.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: L1585P
PubMed Link: 33225950
Variant Present in the following documents:
  • 13059_2020_2192_MOESM1_ESM.xlsx, sheet 5
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: L1585P
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: 4754T>C; L1585P
PubMed Link: 31721781
Variant Present in the following documents:
  • pone.0221288.s012.xlsx, sheet 1
View BVdb publication page



Dissecting molecular mechanisms of resistance to NOTCH1-targeted therapy in T-cell acute lymphoblastic leukemia xenografts.

Haematologica
Agnusdei, Valentina V; Minuzzo, Sonia S; Pinazza, Marica M; Gasparini, Alessandra A; Pezzè, Laura L; Amaro, Adriana Agnese AA; Pasqualini, Lorenza L; Bianco, Paola Del PD; Tognon, Martina M; Frasson, Chiara C; Palumbo, Pietro P; Ciribilli, Yari Y; Pfeffer, Ulrich U; Carella, Massimo M; Amadori, Alberto A; Indraccolo, Stefano S
Publication Date: 2020-05

Variant appearance in text: NOTCH1: L1585P
PubMed Link: 31467126
Variant Present in the following documents:
  • Main text
  • 1051317.pdf
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: NOTCH1: 4754T>C; L1585P
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
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: 4754T>C; L1585P
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: L1585P
PubMed Link: 30389682
Variant Present in the following documents:
  • Main text
  • EMMM-10-e9443-s001.pdf
  • EMMM-10-e9443-s004.xlsx, sheet 2
  • EMMM-10-e9443-s004.xlsx, sheet 3
  • EMMM-10-e9443.pdf
View BVdb publication page



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: L1585P
PubMed Link: 29991687
Variant Present in the following documents:
  • 41467_2018_4924_MOESM1_ESM.pdf
View BVdb publication page



Lmo2 expression defines tumor cell identity during T-cell leukemogenesis.

The Embo Journal
García-Ramírez, Idoia I; Bhatia, Sanil S; Rodríguez-Hernández, Guillermo G; González-Herrero, Inés I; Walter, Carolin C; González de Tena-Dávila, Sara S; Parvin, Salma S; Haas, Oskar O; Woessmann, Wilhelm W; Stanulla, Martin M; Schrappe, Martin M; Dugas, Martin M; Natkunam, Yasodha Y; Orfao, Alberto A; Domínguez, Verónica V; Pintado, Belén B; Blanco, Oscar O; Alonso-López, Diego D; De Las Rivas, Javier J; Martín-Lorenzo, Alberto A; Jiménez, Rafael R; García Criado, Francisco Javier FJ; García Cenador, María Begoña MB; Lossos, Izidore S IS; Vicente-Dueñas, Carolina C; Borkhardt, Arndt A; Hauer, Julia J; Sánchez-García, Isidro I
Publication Date: 2018-07-13

Variant appearance in text: NOTCH1: L1585P
PubMed Link: 29880602
Variant Present in the following documents:
  • Main text
  • EMBJ-37-e98783.pdf
View BVdb publication page



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: 4754T>C; L1585P
PubMed Link: 29296210
Variant Present in the following documents:
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: L1585P
PubMed Link: 28157215
Variant Present in the following documents:
  • bcj20173x11.xlsx, sheet 1
View BVdb publication page



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: L1585P
PubMed Link: 27997540
Variant Present in the following documents:
  • pmed.1002200.s012.xlsx, sheet 3
View BVdb publication page



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: L1585P
PubMed Link: 27590521
Variant Present in the following documents:
  • oncotarget-07-64071-s002.xlsx, sheet 4
View BVdb publication page



Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

Clinical Lymphoma, Myeloma & Leukemia
DiNardo, Courtney D CD; Bannon, Sarah A SA; Routbort, Mark M; Franklin, Anna A; Mork, Maureen M; Armanios, Mary M; Mace, Emily M EM; Orange, Jordan S JS; Jeff-Eke, Meselle M; Churpek, Jane E JE; Takahashi, Koichi K; Jorgensen, Jeffrey L JL; Garcia-Manero, Guillermo G; Kornblau, Steve S; Bertuch, Alison A; Cheung, Hannah H; Bhalla, Kapil K; Futreal, Andrew A; Godley, Lucy A LA; Patel, Keyur P KP
Publication Date: 2016-07

Variant appearance in text: NOTCH1: 4754T>C; L1585P
PubMed Link: 27210295
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: L1585P
PubMed Link: 25194570
Variant Present in the following documents:
  • NIHMS616061-supplement-1.pdf
View BVdb publication page



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: L1585P
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page