NOTCH1 c.3835C>T ;(p.R1279C)

Variant ID: 9-139401234-G-A

NM_017617.3(NOTCH1):c.3835C>T;(p.R1279C)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications
Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J
Publication Date: 2022-10

Variant appearance in text: NOTCH1: 3835C>T; R1279C
PubMed Link: 36969747
Variant Present in the following documents:
  • crc-22-0258-s08.xlsx, sheet 1
View BVdb publication page



Discovering Synergistic Compounds with BYL-719 in PI3K Overactivated Basal-like PDXs.

Cancers
Boyd, David C DC; Zboril, Emily K EK; Olex, Amy L AL; Leftwich, Tess J TJ; Hairr, Nicole S NS; Byers, Holly A HA; Valentine, Aaron D AD; Altman, Julia E JE; Alzubi, Mohammad A MA; Grible, Jacqueline M JM; Turner, Scott A SA; Ferreira-Gonzalez, Andrea A; Dozmorov, Mikhail G MG; Harrell, J Chuck JC
Publication Date: 2023-03-03

Variant appearance in text: NOTCH1: 3835C>T
PubMed Link: 36900375
Variant Present in the following documents:
  • cancers-15-01582.pdf
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: NOTCH1: R1279C; rs182330532
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Investigating a Genetic Link Between Alzheimer's Disease and CADASIL-Related Cerebral Small Vessel Disease.

Molecular Neurobiology
Dunn, Paul J PJ; Lea, Rodney A RA; Maksemous, Neven N; Smith, Robert A RA; Sutherland, Heidi G HG; Haupt, Larisa M LM; Griffiths, Lyn R LR
Publication Date: 2022-12

Variant appearance in text: rs182330532
PubMed Link: 36175824
Variant Present in the following documents:
  • 12035_2022_Article_3039.pdf
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: NOTCH1: 3835C>T; R1279C; rs182330532
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

Alzheimer'S Research & Therapy
Mol, Merel O MO; van der Lee, Sven J SJ; Hulsman, Marc M; Pijnenburg, Yolande A L YAL; Scheltens, Phillip P; , ; Seelaar, Harro H; van Swieten, John C JC; Kaat, Laura Donker LD; Holstege, Henne H; van Rooij, Jeroen G J JGJ
Publication Date: 2022-06-01

Variant appearance in text: NOTCH1: R1279C
PubMed Link: 35650585
Variant Present in the following documents:
  • 13195_2022_1018_MOESM1_ESM.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: 3835C>T; R1279C
PubMed Link: 35411095
Variant Present in the following documents:
  • NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 3835C>T; Arg1279Cys; rs182330532
PubMed Link: 35288444
Variant Present in the following documents:
  • heartjnl-2021-320428supp001.pdf
View BVdb publication page



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: R1279C
PubMed Link: 35176137
Variant Present in the following documents:
  • bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 18
View BVdb publication page



The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.

Genes
Paolucci, Matteo M; Vincenzi, Chiara C; Romoli, Michele M; Amico, Giulia G; Ceccherini, Isabella I; Lattanzi, Simona S; Bersano, Anna A; Longoni, Marco M; Sacco, Simona S; Vernieri, Fabrizio F; Pascarella, Rosario R; Valzania, Franco F; Zedde, Marialuisa M
Publication Date: 2021-12-06

Variant appearance in text: NOTCH1: 3835C>T
PubMed Link: 34946902
Variant Present in the following documents:
  • Main text
  • genes-12-01953.pdf
View BVdb publication page



The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.

Genes
Paolucci, Matteo M; Vincenzi, Chiara C; Romoli, Michele M; Amico, Giulia G; Ceccherini, Isabella I; Lattanzi, Simona S; Bersano, Anna A; Longoni, Marco M; Sacco, Simona S; Vernieri, Fabrizio F; Pascarella, Rosario R; Valzania, Franco F; Zedde, Marialuisa M
Publication Date: 2021-12-06

Variant appearance in text: NOTCH1: 3835C>T
PubMed Link: 34946902
Variant Present in the following documents:
  • Main text
  • genes-12-01953.pdf
View BVdb publication page



Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021

Variant appearance in text: NOTCH1: 3835C>T; R1279C
PubMed Link: 34858840
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Molecular Genetics & Genomic Medicine
Musfee, Fadi I FI; Guo, Dongchuan D; Pinard, Amélie C AC; Hostetler, Ellen M EM; Blue, Elizabeth E EE; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ; Milewicz, Dianna M DM; Prakash, Siddharth K SK
Publication Date: 2020-10

Variant appearance in text: NOTCH1: Arg1279Cys
PubMed Link: 32748548
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1406.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NOTCH1: 3835C>T; R1279*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_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: 3835C>T; R1279C
PubMed Link: 31721781
Variant Present in the following documents:
  • pone.0221288.s012.xlsx, sheet 1
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: 3835C>T; Arg1279Cys
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: 3835C>T; R1279C
PubMed Link: 30404791
Variant Present in the following documents:
  • JEM_20180570_TableS4.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: NOTCH1: 3835C>T; Arg1279Cys; rs182330532
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 6
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: NOTCH1: 3835C>T; Arg1279Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: NOTCH1: 3835C>T; R1279C
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: NOTCH1: R1279C
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.

Leukemia
Tenedini, E E; Bernardis, I I; Artusi, V V; Artuso, L L; Roncaglia, E E; Guglielmelli, P P; Pieri, L L; Bogani, C C; Biamonte, F F; Rotunno, G G; Mannarelli, C C; Bianchi, E E; Pancrazzi, A A; Fanelli, T T; Malagoli Tagliazucchi, G G; Ferrari, S S; Manfredini, R R; Vannucchi, A M AM; Tagliafico, E E; ,
Publication Date: 2014-05

Variant appearance in text: rs182330532
PubMed Link: 24150215
Variant Present in the following documents:
  • leu2013302x7.xls, sheet 1
View BVdb publication page