NOTCH1 c.4781G>A ;(p.R1594Q)

Variant ID: 9-139399362-C-T

NM_017617.3(NOTCH1):c.4781G>A;(p.R1594Q)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


The way to precision medicine in gynecologic cancers: The first case report of an exceptional response to alpelisib in a PIK3CA-mutated endometrial cancer.

Frontiers In Oncology
Passarelli, Anna A; Ventriglia, Jole J; Pisano, Carmela C; Cecere, Sabrina Chiara SC; Napoli, Marilena Di MD; Rossetti, Sabrina S; Tambaro, Rosa R; Tarotto, Luca L; Fiore, Francesco F; Farolfi, Alberto A; Bartoletti, Michele M; Pignata, Sandro S
Publication Date: 2022

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 36713525
Variant Present in the following documents:
  • Main text
  • fonc-12-1088962.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: R1594Q; rs1326257346
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
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: R1594Q
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment
Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH
Publication Date: 2021-01

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 32810930
Variant Present in the following documents:
  • crt-2020-559-suppl3.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: R1594Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Ebiomedicine
Mäki-Nevala, Satu S; Valo, Satu S; Ristimäki, Ari A; Sarhadi, Virinder V; Knuutila, Sakari S; Nyström, Minna M; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2019-01

Variant appearance in text: NOTCH1: Arg1594Gln
PubMed Link: 30578081
Variant Present in the following documents:
  • mmc1.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: R1594Q
PubMed Link: 28157215
Variant Present in the following documents:
  • bcj20173x11.xlsx, sheet 1
View BVdb publication page



Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology
Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL
Publication Date: 2016-06

Variant appearance in text: NOTCH1: 4781G>A; R1594Q
PubMed Link: 27284491
Variant Present in the following documents:
  • Main text
View BVdb publication page



Does Notch play a tumor suppressor role across diverse squamous cell carcinomas?

Cancer Medicine
Zhang, Min M; Biswas, Sangita S; Qin, Xin X; Gong, Wenrong W; Deng, Wenbing W; Yu, Hongjun H
Publication Date: 2016-08

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 27228302
Variant Present in the following documents:
  • Main text
  • CAM4-5-2048.pdf
View BVdb publication page



Human NOTCH2 Is Resistant to Ligand-independent Activation by Metalloprotease Adam17.

The Journal Of Biological Chemistry
Habets, Roger A J RA; Groot, Arjan J AJ; Yahyanejad, Sanaz S; Tiyanont, Kittichoat K; Blacklow, Stephen C SC; Vooijs, Marc M
Publication Date: 2015-06-05

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 25918160
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: NOTCH1: 4781G>A; Arg1594Gln
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page



HRAS mutations are frequent in inverted urothelial neoplasms.

Human Pathology
McDaniel, Andrew S AS; Zhai, Yali Y; Cho, Kathleen R KR; Dhanasekaran, Saravana M SM; Montgomery, Jeffrey S JS; Palapattu, Ganesh G; Siddiqui, Javed J; Morgan, Todd T; Alva, Ajjai A; Weizer, Alon A; Lee, Cheryl T CT; Chinnaiyan, Arul M AM; Quist, Michael J MJ; Grasso, Catherine S CS; Tomlins, Scott A SA; Mehra, Rohit R
Publication Date: 2014-09

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 25097040
Variant Present in the following documents:
  • Main text
View BVdb publication page



The double-edged sword of Notch signaling in cancer.

Seminars In Cell & Developmental Biology
South, Andrew P AP; Cho, Raymond J RJ; Aster, Jon C JC
Publication Date: 2012-06

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 22309843
Variant Present in the following documents:
  • Main text
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: R1594Q
PubMed Link: 22006338
Variant Present in the following documents:
  • Main text
View BVdb publication page



Temporal dissection of tumorigenesis in primary cancers.

Cancer Discovery
Durinck, Steffen S; Ho, Christine C; Wang, Nicholas J NJ; Liao, Wilson W; Jakkula, Lakshmi R LR; Collisson, Eric A EA; Pons, Jennifer J; Chan, Sai-Wing SW; Lam, Ernest T ET; Chu, Catherine C; Park, Kyunghee K; Hong, Sung-woo SW; Hur, Joe S JS; Huh, Nam N; Neuhaus, Isaac M IM; Yu, Siegrid S SS; Grekin, Roy C RC; Mauro, Theodora M TM; Cleaver, James E JE; Kwok, Pui-Yan PY; LeBoit, Philip E PE; Getz, Gad G; Cibulskis, Kristian K; Aster, Jon C JC; Huang, Haiyan H; Purdom, Elizabeth E; Li, Jian J; Bolund, Lars L; Arron, Sarah T ST; Gray, Joe W JW; Spellman, Paul T PT; Cho, Raymond J RJ
Publication Date: 2011-07

Variant appearance in text: NOTCH1: R1594Q
PubMed Link: 21984974
Variant Present in the following documents:
  • Main text
View BVdb publication page