Publications:

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Minimal residual disease detection by mutation-specific droplet digital PCR for leukemia/lymphoma.

International Journal Of Hematology

Shirai, Ryota R; Osumi, Tomoo T; Keino, Dai D; Nakabayashi, Kazuhiko K; Uchiyama, Toru T; Sekiguchi, Masahiro M; Hiwatari, Mitsuteru M; Yoshida, Masanori M; Yoshida, Kaoru K; Yamada, Yuji Y; Tomizawa, Daisuke D; Takae, Seido S; Kiyokawa, Nobutaka N; Matsumoto, Kimikazu K; Yoshioka, Takako T; Hata, Kenichiro K; Hori, Toshinori T; Suzuki, Nao N; Kato, Motohiro M

Publication Date: 2023-03-03

Variant appearance in text: NOTCH1: S2467X

PubMed Link: 36867356

Variant Present in the following documents:

• 12185_2023_3566_MOESM1_ESM.pdf

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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: S2467*

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 2

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: NOTCH1: 7400C>A; S2467*

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: NOTCH1: 7400C>A; S2467*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: S2467*

PubMed Link: 33225950

Variant Present in the following documents:

• 13059_2020_2192_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: NOTCH1: 7400C>A; S2467*

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: NOTCH1: S2467*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.

Leukemia

Blakemore, Stuart J SJ; Clifford, Ruth R; Parker, Helen H; Antoniou, Pavlos P; Stec-Dziedzic, Ewa E; Larrayoz, Marta M; Davis, Zadie Z; Kadalyayil, Latha L; Colins, Andrew A; Robbe, Pauline P; Vavoulis, Dimitris D; Forster, Jade J; Carr, Louise L; Morilla, Ricardo R; Else, Monica M; Bryant, Dean D; McCarthy, Helen H; Walewska, Renata J RJ; Steele, Andrew J AJ; Chan, Jacqueline J; Speight, Graham G; Stankovic, Tanja T; Cragg, Mark S MS; Catovsky, Daniel D; Oscier, David G DG; Rose-Zerilli, Matthew J J MJJ; Schuh, Anna A; Strefford, Jonathan C JC

Publication Date: 2020-07

Variant appearance in text: NOTCH1: S2467X

PubMed Link: 32015491

Variant Present in the following documents:

• 41375_2020_723_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Cancer Science

Kimura, Shunsuke S; Seki, Masafumi M; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Akiyama, Masaharu M; Koh, Katsuyoshi K; Imamura, Toshihiko T; Manabe, Atsushi A; Hayashi, Yasuhide Y; Kobayashi, Masao M; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J

Publication Date: 2019-02

Variant appearance in text: NOTCH1: S2467X

PubMed Link: 30387229

Variant Present in the following documents:

• CAS-110-784-s012.xlsx, sheet 1

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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: S2467*

PubMed Link: 29998084

Variant Present in the following documents:

• Main text
• fonc-08-00229.pdf

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Spatio-Temporal Genomic Heterogeneity, Phylogeny, and Metastatic Evolution in Salivary Adenoid Cystic Carcinoma.

Journal Of The National Cancer Institute

Liu, Bin B; Mitani, Yoshitsugu Y; Rao, Xiayu X; Zafereo, Mark M; Zhang, Jianjun J; Zhang, Jianhua J; Futreal, P Andrew PA; Lozano, Guillermina G; El-Naggar, Adel K AK

Publication Date: 2017-10-01

Variant appearance in text: NOTCH1: 7400C>A; S2467X

PubMed Link: 29117356

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diffuse Staining for Activated NOTCH1 Correlates With NOTCH1 Mutation Status and Is Associated With Worse Outcome in Adenoid Cystic Carcinoma.

The American Journal Of Surgical Pathology

Sajed, Dipti P DP; Faquin, William C WC; Carey, Chris C; Severson, Eric A EA; H Afrogheh, Amir A; A Johnson, Carl C; Blacklow, Stephen C SC; Chau, Nicole G NG; Lin, Derrick T DT; Krane, Jeffrey F JF; Jo, Vickie Y VY; Garcia, Joaquín J JJ; Sholl, Lynette M LM; Aster, Jon C JC

Publication Date: 2017-11

Variant appearance in text: NOTCH1: 7400C>A; S2467*

PubMed Link: 28914715

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: S2467X

PubMed Link: 28157215

Variant Present in the following documents:

• bcj20173x11.xlsx, sheet 1

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Activating NOTCH1 Mutations Define a Distinct Subgroup of Patients With Adenoid Cystic Carcinoma Who Have Poor Prognosis, Propensity to Bone and Liver Metastasis, and Potential Responsiveness to Notch1 Inhibitors.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Ferrarotto, Renata R; Mitani, Yoshitsugu Y; Diao, Lixia L; Guijarro, Irene I; Wang, Jing J; Zweidler-McKay, Patrick P; Bell, Diana D; William, William N WN; Glisson, Bonnie S BS; Wick, Michael J MJ; Kapoun, Ann M AM; Patnaik, Amita A; Eckhardt, Gail G; Munster, Pamela P; Faoro, Leonardo L; Dupont, Jakob J; Lee, J Jack JJ; Futreal, Andrew A; El-Naggar, Adel K AK; Heymach, John V JV

Publication Date: 2017-01-20

Variant appearance in text: NOTCH1: S2467*

PubMed Link: 27870570

Variant Present in the following documents:

• JCO.2016.67.5264.pdf

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Novel dynamin 2 mutations in adult T-cell acute lymphoblastic leukemia.

Oncology Letters

Ge, Zheng Z; Li, Min M; Zhao, Gang G; Xiao, Lichan L; Gu, Yan Y; Zhou, Xilian X; Yu, Michael D MD; Li, Jianyong J; Dovat, Sinisa S; Song, Chunhua C

Publication Date: 2016-10

Variant appearance in text: NOTCH1: 7400C>A; S2467*

PubMed Link: 27698851

Variant Present in the following documents:

• Main text

View BVdb publication page

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Co-existence of PHF6 and NOTCH1 mutations in adult T-cell acute lymphoblastic leukemia.

Oncology Letters

Li, Min M; Xiao, Lichan L; Xu, Jingyan J; Zhang, Run R; Guo, Jingjing J; Olson, Justin J; Wu, Yujie Y; Li, Jianyong J; Song, Chunhua C; Ge, Zheng Z

Publication Date: 2016-07

Variant appearance in text: NOTCH1: 7400C>A; S2467*

PubMed Link: 27347093

Variant Present in the following documents:

• Main text
• ol-12-01-0016.pdf

View BVdb publication page

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