Publications:

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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: L2457V; rs61755043

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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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: L2457V

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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: L2457V

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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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: L2457V

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1
• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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<i>SF3B1</i>-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica

Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Vit, Filippo F; Vendramini, Elena E; Laurenti, Luca L; D'Arena, Giovanni G; Olivieri, Jacopo J; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Zucchetto, Antonella A; Bomben, Riccardo R; Rossi, Francesca Maria FM; Del Poeta, Giovanni G; Dal Bo, Michele M; Gattei, Valter V

Publication Date: 2021-12-01

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 33121237

Variant Present in the following documents:

• 2020_261891_POZZO_SUPPL.pdf

View BVdb publication page

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Reassessing the role of high dose cytarabine and mitoxantrone in relapsed/refractory acute myeloid leukemia.

Oncotarget

Canaani, Jonathan J; Nagar, Meital M; Heering, Gabriel G; Gefen, Chen C; Yerushalmi, Ronit R; Shem-Tov, Noga N; Volchek, Yulia Y; Merkel, Drorit D; Avigdor, Abraham A; Shimoni, Avichai A; Amariglio, Ninette N; Rechavi, Gidi G; Nagler, Arnon A

Publication Date: 2020-06-09

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 32577167

Variant Present in the following documents:

• Main text
• oncotarget-11-2233.pdf

View BVdb publication page

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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: L2457V

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma.

Journal Of Translational Medicine

Banerjee, Sudeep S; Corless, Christopher L CL; Miettinen, Markku M MM; Noh, Sangkyu S; Ustoy, Rowan R; Davis, Jessica L JL; Tang, Chih-Min CM; Yebra, Mayra M; Burgoyne, Adam M AM; Sicklick, Jason K JK

Publication Date: 2019-07-30

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 31362756

Variant Present in the following documents:

• Main text
• 12967_2019_Article_1995.pdf

View BVdb publication page

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Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon

Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S

Publication Date: 2018-12

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 30603682

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Frontiers In Oncology

Rosati, Emanuela E; Baldoni, Stefano S; De Falco, Filomena F; Del Papa, Beatrice B; Dorillo, Erica E; Rompietti, Chiara C; Albi, Elisa E; Falzetti, Franca F; Di Ianni, Mauro M; Sportoletti, Paolo P

Publication Date: 2018

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 29998084

Variant Present in the following documents:

• Main text
• fonc-08-00229.pdf

View BVdb publication page

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: NOTCH1: 7369C>G; L2457V

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular subtype specific efficacy of MEK inhibitors in pancreatic cancers.

Plos One

Brauswetter, Diána D; Gurbi, Bianka B; Varga, Attila A; Várkondi, Edit E; Schwab, Richárd R; Bánhegyi, Gábor G; Fábián, Orsolya O; Kéri, György G; Vályi-Nagy, István I; Peták, István I

Publication Date: 2017

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 28957417

Variant Present in the following documents:

• Main text
• pone.0185687.pdf

View BVdb publication page

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Development and Validation of an Ultradeep Next-Generation Sequencing Assay for Testing of Plasma Cell-Free DNA from Patients with Advanced Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Janku, Filip F; Zhang, Shile S; Waters, Jill J; Liu, Li L; Huang, Helen J HJ; Subbiah, Vivek V; Hong, David S DS; Karp, Daniel D DD; Fu, Siqing S; Cai, Xuyu X; Ramzanali, Nishma M NM; Madwani, Kiran K; Cabrilo, Goran G; Andrews, Debra L DL; Zhao, Yue Y; Javle, Milind M; Kopetz, E Scott ES; Luthra, Rajyalakshmi R; Kim, Hyunsung J HJ; Gnerre, Sante S; Satya, Ravi Vijaya RV; Chuang, Han-Yu HY; Kruglyak, Kristina M KM; Toung, Jonathan J; Zhao, Chen C; Shen, Richard R; Heymach, John V JV; Meric-Bernstam, Funda F; Mills, Gordon B GB; Fan, Jian-Bing JB; Salathia, Neeraj S NS

Publication Date: 2017-09-15

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 28536309

Variant Present in the following documents:

• Main text

View BVdb publication page

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Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients.

Medicine

Zick, Aviad A; Peretz, Tamar T; Lotem, Michal M; Hubert, Ayala A; Katz, Daniela D; Temper, Mark M; Rottenberg, Yakir Y; Uziely, Beatrice B; Nechushtan, Hovav H; Meirovitz, Amichai A; Sonnenblick, Amir A; Sapir, Eli E; Edelman, David D; Goldberg, Yael Y; Lossos, Alexander A; Rosenberg, Shai S; Fried, Iris I; Finklstein, Ruth R; Pikarsky, Eli E; Goldshmidt, Hanoch H

Publication Date: 2017-05

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 28514312

Variant Present in the following documents:

• medi-96-e6931.pdf

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Expression of circulating miRNAs associated with lymphocyte differentiation and activation in CLL-another piece in the puzzle.

Annals Of Hematology

Filip, Agata A AA; Grenda, Anna A; Popek, Sylwia S; Koczkodaj, Dorota D; Michalak-Wojnowska, Małgorzata M; Budzyński, Michał M; Wąsik-Szczepanek, Ewa E; Zmorzyński, Szymon S; Karczmarczyk, Agnieszka A; Giannopoulos, Krzysztof K

Publication Date: 2017-01

Variant appearance in text: NOTCH1: 7369C>G

PubMed Link: 27730344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel biomarkers of resistance of pancreatic cancer cells to oncolytic vesicular stomatitis virus.

Oncotarget

Hastie, Eric E; Cataldi, Marcela M; Moerdyk-Schauwecker, Megan J MJ; Felt, Sébastien A SA; Steuerwald, Nury N; Grdzelishvili, Valery Z VZ

Publication Date: 2016-09-20

Variant appearance in text: NOTCH1: 7369C>G; L2457V

PubMed Link: 27533247

Variant Present in the following documents:

• Main text
• oncotarget-07-61601-s006.xlsx, sheet 1
• oncotarget-07-61601.pdf

View BVdb publication page

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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One

de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP

Publication Date: 2016

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 26919633

Variant Present in the following documents:

• pone.0149405.s010.xlsx, sheet 1

View BVdb publication page

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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: 7369C>G; L2457V

PubMed Link: 25907971

Variant Present in the following documents:

• 12885_2015_1278_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

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NOTCH1 mutations in CLL associated with trisomy 12.

Blood

Balatti, Veronica V; Bottoni, Arianna A; Palamarchuk, Alexey A; Alder, Hansjuerg H; Rassenti, Laura Z LZ; Kipps, Thomas J TJ; Pekarsky, Yuri Y; Croce, Carlo M CM

Publication Date: 2012-01-12

Variant appearance in text: NOTCH1: L2457V

PubMed Link: 22086416

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L2457V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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