Publications:

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Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.

Nature Communications

Yamagishi, Makoto M; Kubokawa, Miyuki M; Kuze, Yuta Y; Suzuki, Ayako A; Yokomizo, Akari A; Kobayashi, Seiichiro S; Nakashima, Makoto M; Makiyama, Junya J; Iwanaga, Masako M; Fukuda, Takahiro T; Watanabe, Toshiki T; Suzuki, Yutaka Y; Uchimaru, Kaoru K

Publication Date: 2021-08-10

Variant appearance in text: NOTCH1: Q2440X

PubMed Link: 34376672

Variant Present in the following documents:

• 41467_2021_25101_MOESM6_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: Q2440*

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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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: Q2440X

PubMed Link: 33436855

Variant Present in the following documents:

• 41598_2020_80613_MOESM1_ESM.pdf

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: Q2440*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.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: Q2440*

PubMed Link: 33121237

Variant Present in the following documents:

• 2020_261891_POZZO_SUPPL.pdf

View BVdb publication page

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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: 7318C>T; Q2440*

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: Gln2440Ter

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

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Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: NOTCH1: 7318C>T; Gln2440Ter

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.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: Q2440*

PubMed Link: 29998084

Variant Present in the following documents:

• Main text
• fonc-08-00229.pdf

View BVdb publication page

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Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Leukemia

Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E

Publication Date: 2018-03

Variant appearance in text: NOTCH1: Q2440*

PubMed Link: 28924241

Variant Present in the following documents:

• leu2017291x4.xlsx, sheet 1

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Genomic characterization of high-count MBL cases indicates that early detection of driver mutations and subclonal expansion are predictors of adverse clinical outcome.

Leukemia

Barrio, S S; Shanafelt, T D TD; Ojha, J J; Chaffee, K G KG; Secreto, C C; Kortüm, K M KM; Pathangey, S S; Van-Dyke, D L DL; Slager, S L SL; Fonseca, R R; Kay, N E NE; Braggio, E E

Publication Date: 2017-01

Variant appearance in text: NOTCH1: Q2440*

PubMed Link: 27469216

Variant Present in the following documents:

• NIHMS793139-supplement-3.xlsx, sheet 1

View BVdb publication page

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Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine

Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM

Publication Date: 2016-05-04

Variant appearance in text: NOTCH1: Gln2440Ter

PubMed Link: 27146902

Variant Present in the following documents:

• Main text
• 12967_2016_Article_878.pdf

View BVdb publication page

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Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

The Journal Of Experimental Medicine

Fabbri, Giulia G; Khiabanian, Hossein H; Holmes, Antony B AB; Wang, Jiguang J; Messina, Monica M; Mullighan, Charles G CG; Pasqualucci, Laura L; Rabadan, Raul R; Dalla-Favera, Riccardo R

Publication Date: 2013-10-21

Variant appearance in text: NOTCH1: Q2440*

PubMed Link: 24127483

Variant Present in the following documents:

• supp_jem.20131448_JEM_20131448_TableS2.xlsx, sheet 1

View BVdb publication page

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