Publications:

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Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.

Scientific Reports

Quinn, Leonard M LM; Haldenby, Sam S; Antzcak, Philip P; Fowler, Anna A; Bullock, Katie K; Kenny, John J; Gilbert, Timothy T; Andrews, Timothy T; Diaz-Nieto, Rafael R; Fenwick, Stephen S; Jones, Robert R; Costello-Goldring, Eithne E; Poston, Graeme G; Greenhalf, William W; Palmer, Daniel D; Malik, Hassan H; Goldring, Chris C

Publication Date: 2023-04-24

Variant appearance in text: NOTCH1: 4732_4734delGTG; Val1578del

PubMed Link: 37095160

Variant Present in the following documents:

• Main text
• 41598_2023_Article_33096.pdf

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: NOTCH1: 4732_4734del; V1578del

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: NOTCH1: 4732_4734del; V1578del

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.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: V1575del

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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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: V1578del

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 2

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: NOTCH1: 4732_4734delGTG; V1578delV

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Clinicopathological aspects of V-Raf murine sarcoma viral oncogene homolog B1 (BRAF) mutated non-small cell lung carcinoma in an Indian cohort: is there a difference?

International Journal Of Molecular Epidemiology And Genetics

Batra, Ullas U; Nathany, Shrinidhi S; Sharma, Mansi M; Mattoo, Sakshi S; Mehta, Anurag A; Jose, Joslia T JT

Publication Date: 2021

Variant appearance in text: NOTCH1: Val1578del

PubMed Link: 35126834

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Blood Advances

Tran, Thai Hoa TH; Langlois, Sylvie S; Meloche, Caroline C; Caron, Maxime M; Saint-Onge, Pascal P; Rouette, Alexandre A; Bataille, Alain R AR; Jimenez-Cortes, Camille C; Sontag, Thomas T; Bittencourt, Henrique H; Laverdière, Caroline C; Lavallée, Vincent-Philippe VP; Leclerc, Jean-Marie JM; Cole, Peter D PD; Gennarini, Lisa M LM; Kahn, Justine M JM; Kelly, Kara M KM; Michon, Bruno B; Santiago, Raoul R; Stevenson, Kristen E KE; Welch, Jennifer J G JJG; Schroeder, Kaitlin M KM; Koch, Victoria V; Cellot, Sonia S; Silverman, Lewis B LB; Sinnett, Daniel D

Publication Date: 2022-02-22

Variant appearance in text: NOTCH1: V1578del

PubMed Link: 34933343

Variant Present in the following documents:

• advancesADV2021005634-suppl1.xlsx, sheet 1
• advancesADV2021005634-suppl1.xlsx, sheet 3

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: NOTCH1: 4730_4732delTGG; Val1578del

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1

View BVdb publication page

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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: V1578delV

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.

Genome Medicine

Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2021-10-04

Variant appearance in text: NOTCH1: V1578del

PubMed Link: 34607609

Variant Present in the following documents:

• 13073_2021_969_MOESM1_ESM.xlsx, sheet 1
• 13073_2021_969_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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An isolated childhood myeloid sarcoma with germline MSH6 mutation-a case report.

Translational Pediatrics

Liu, Yu Y; GuLiBaHa, MaiMaiTi M; Yue, Ying-Bin YB; Li, Ming-Wei MW; Cao, Shan-Bo SB; Yan, Mei M

Publication Date: 2021-08

Variant appearance in text: NOTCH1: 4732_4734del

PubMed Link: 34584885

Variant Present in the following documents:

• Main text
• tp-10-08-2136.pdf

View BVdb publication page

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In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.

Blood Advances

Anekpuritanang, Tauangtham T; Klairmont, Matthew M MM; Gradowski, Joel J; Hagiwara, Kohei K; Bailey, Nathanael G NG; Chandra, Pranil P; Liu, Yiwei Y; Mulder, Heather L HL; Easton, John J; Zhang, Jinghui J; Martin, Michael G MG; Owczarczyk, Anna B AB; Dunlap, Jennifer B JB; Fan, Guang G; Press, Richard D RD; Raess, Philipp W PW

Publication Date: 2021-12-14

Variant appearance in text: NOTCH1: V1578del

PubMed Link: 34559205

Variant Present in the following documents:

• advancesADV2021004983-suppl1.pdf

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: V1578del

PubMed Link: 34167562

Variant Present in the following documents:

• 13045_2021_1114_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.

Nature Communications

Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX

Publication Date: 2021-05-24

Variant appearance in text: NOTCH1: 4732_4734del; V1578del

PubMed Link: 34031426

Variant Present in the following documents:

• 41467_2021_23379_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Determining the Appropriate Treatment for T-Cell Acute Lymphoblastic Leukemia With SET-CAN/NUP214 Fusion: Perspectives From a Case Report and Literature Review.

Frontiers In Oncology

Lin, Na N; Liu, Zhenghua Z; Li, Yan Y; Yan, Xiaojing X; Wang, Lei L

Publication Date: 2021

Variant appearance in text: NOTCH1: 4732_4734del

PubMed Link: 33869055

Variant Present in the following documents:

• Main text
• fonc-11-651494.pdf

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: V1578del

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

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: V1578del

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1
• CAM4-10-53-s004.xlsx, sheet 1

View BVdb publication page

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New insights in gene expression alteration as effect of doxorubicin drug resistance in triple negative breast cancer cells.

Journal Of Experimental & Clinical Cancer Research : Cr

Ciocan-Cartita, Cristina Alexandra CA; Jurj, Ancuta A; Zanoaga, Oana O; Cojocneanu, Roxana R; Pop, Laura-Ancuta LA; Moldovan, Alin A; Moldovan, Cristian C; Zimta, Alina Andreea AA; Raduly, Lajos L; Pop-Bica, Cecilia C; Buse, Mihail M; Budisan, Liviuta L; Virag, Piroska P; Irimie, Alexandru A; Gomes Dias, Sandra Martha SM; Berindan-Neagoe, Ioana I; Braicu, Cornelia C

Publication Date: 2020-11-13

Variant appearance in text: NOTCH1: 4732_4734delGTG

PubMed Link: 33187552

Variant Present in the following documents:

• Main text
• 13046_2020_Article_1736.pdf

View BVdb publication page

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Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia.

Blood

Albertí-Servera, Llucia L; Demeyer, Sofie S; Govaerts, Inge I; Swings, Toon T; De Bie, Jolien J; Gielen, Olga O; Brociner, Marco M; Michaux, Lucienne L; Maertens, Johan J; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Boeckx, Nancy N; Segers, Heidi H; Cools, Jan J

Publication Date: 2021-02-11

Variant appearance in text: NOTCH1: V1578del

PubMed Link: 32812017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Paired genetic analysis by next-generation sequencing of lung cancer and associated idiopathic pulmonary fibrosis.

Cancer Science

Otsubo, Kohei K; Iwama, Eiji E; Ijichi, Kayo K; Kubo, Naoki N; Yoneshima, Yasuto Y; Inoue, Hiroyuki H; Tanaka, Kentaro K; Osoegawa, Atsushi A; Tagawa, Tetsuzo T; Nakanishi, Yoichi Y; Okamoto, Isamu I

Publication Date: 2020-07

Variant appearance in text: NOTCH1: Val1578del

PubMed Link: 32426915

Variant Present in the following documents:

• Main text
• CAS-111-2482.pdf

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: NOTCH1: 4732_4734delGTG; V1578del

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s011.xlsx, sheet 1

View BVdb publication page

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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: V1578delV

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Clinical Implications of Circulating Tumor DNA from Ascites and Serial Plasma in Ovarian Cancer.

Cancer Research And Treatment

Han, Mi-Ryung MR; Lee, Sug Hyung SH; Park, Jung Yoon JY; Hong, Hyosun H; Ho, Jung Yoon JY; Hur, Soo Young SY; Choi, Youn Jin YJ

Publication Date: 2020-07

Variant appearance in text: NOTCH1: 4732_4734del

PubMed Link: 32106643

Variant Present in the following documents:

• Main text
• crt-2019-700.pdf
• crt-2019-700-suppl4.pdf

View BVdb publication page

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Connecting the dots between different networks: miRNAs associated with bladder cancer risk and progression.

Journal Of Experimental & Clinical Cancer Research : Cr

Braicu, Cornelia C; Buiga, Rares R; Cojocneanu, Roxana R; Buse, Mihail M; Raduly, Lajos L; Pop, Laura Ancuta LA; Chira, Sergiu S; Budisan, Liviuta L; Jurj, Ancuta A; Ciocan, Cristina C; Magdo, Lorand L; Irimie, Alexandru A; Dobrota, Florentin F; Petrut, Bogdan B; Berindan-Neagoe, Ioana I

Publication Date: 2019-10-29

Variant appearance in text: NOTCH1: 4732_4734delGTG; Val1578del

PubMed Link: 31665050

Variant Present in the following documents:

• 13046_2019_1406_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.

Oncology Letters

Taher, Mohiuddin M MM; Hassan, Amal Ali AA; Saeed, Muhammad M; Jastania, Raid A RA; Nageeti, Tahani H TH; Alkhalidi, Hisham H; Dairi, Ghida G; Abduljaleel, Zainularifeen Z; Athar, Mohammad M; Bouazzaoui, Abdellatif A; El-Bjeirami, Wafa M WM; Al-Allaf, Faisal A FA

Publication Date: 2019-11

Variant appearance in text: NOTCH1: 4732_4734delGTG; Val1578delVal

PubMed Link: 31612017

Variant Present in the following documents:

• Main text

View BVdb publication page

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First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia.

Annals Of Laboratory Medicine

Seol, Chang Ahn CA; Cho, Young Uk YU; Jang, Seongsoo S; Park, Chan Jeoung CJ; Lee, Jung Hee JH; Seo, Eul Ju EJ

Publication Date: 2020-01

Variant appearance in text: NOTCH1: 4732_4734delGTG; V1578del

PubMed Link: 31432644

Variant Present in the following documents:

• Main text
• alm-40-76.pdf

View BVdb publication page

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Target sequencing of cancer-related genes in early esophageal squamous neoplasia resected by endoscopic resection in Japanese patients.

Oncotarget

Kobayashi, Shoji S; Yamaguchi, Tatsuya T; Maekawa, Shinya S; Takano, Shinichi S; Kuno, Toru T; Tanaka, Keisuke K; Tsukui, Yuya Y; Iwamoto, Fumihiko F; Yoshida, Takashi T; Asakawa, Yukiko Y; Fukasawa, Mitsuharu M; Nakayama, Yasuhiro Y; Inoue, Taisuke T; Uetake, Tomoyoshi T; Sakamoto, Minoru M; Ohtaka, Masahiko M; Sato, Tadashi T; Enomoto, Nobuyuki N

Publication Date: 2018-12-04

Variant appearance in text: NOTCH1: Val1578del

PubMed Link: 30613367

Variant Present in the following documents:

• oncotarget-09-36793-s001.pdf

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: 4732_4734del

PubMed Link: 30387229

Variant Present in the following documents:

• CAS-110-784-s012.xlsx, sheet 1

View BVdb publication page

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Functional genomic landscape of acute myeloid leukaemia.

Nature

Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ

Publication Date: 2018-10

Variant appearance in text: NOTCH1: V1578delV

PubMed Link: 30333627

Variant Present in the following documents:

• NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 5

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: NOTCH1: 4732_4734delGTG; Val1575del

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s6.xlsx, sheet 8

View BVdb publication page

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Clinical impact of miR-223 expression in pediatric T-Cell lymphoblastic lymphoma.

Oncotarget

Pomari, Elena E; Lovisa, Federica F; Carraro, Elisa E; Primerano, Simona S; D'Amore, Emanuele S G ESG; Bonvini, Paolo P; Nigro, Luca Lo LL; Vito, Rita De R; Vinti, Luciana L; Farruggia, Piero P; Pillon, Marta M; Basso, Giuseppe G; Basso, Katia K; Mussolin, Lara L

Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: 4732_4734delGTG; V1578del

PubMed Link: 29296210

Variant Present in the following documents:

View BVdb publication page

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Phenotype characterization of human melanoma cells resistant to dabrafenib.

Oncology Reports

Cordaro, Fabiola Gilda FG; De Presbiteris, Anna Lisa AL; Camerlingo, Rosa R; Mozzillo, Nicola N; Pirozzi, Giuseppe G; Cavalcanti, Ernesta E; Manca, Antonella A; Palmieri, Giuseppe G; Cossu, Antonio A; Ciliberto, Gennaro G; Ascierto, Paolo A PA; Travali, Salvatore S; Patriarca, Eduardo J EJ; Caputo, Emilia E

Publication Date: 2017-11

Variant appearance in text: NOTCH1: 4732_4734delGTG; Val1578del

PubMed Link: 29048639

Variant Present in the following documents:

• Main text
• or-38-05-2741.pdf

View BVdb publication page

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Durable Local Control Following Concurrent Hypofractionated Chemoradiation for a Massive Inflammatory Breast Cancer Chest Wall Recurrence.

Cureus

Dyer, Brandon A BA; Nguyen, Ky Nam B KNB; Shukla, Rakendu P RP; Li, Tianhong T; Daly, Megan E ME

Publication Date: 2017-06-21

Variant appearance in text: NOTCH1: V1575del

PubMed Link: 28775919

Variant Present in the following documents:

• Main text

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Cancer gene panel analysis of cultured circulating tumor cells and primary tumor tissue from patients with breast cancer.

Oncology Letters

Hwang, Eunjoo E; Uh, Ji-Hyun JH; Lee, Hye Seon HS; Lee, Cham Han CH; Lee, Soo Jeong SJ; Ahn, Sei Hyun SH; Son, Byung Ho BH; Lee, Jong Won JW; Yu, Jong Han JH; Kwon, Nak-Jung NJ; Lee, Woo Chung WC; Yang, Kap-Seok KS; Choi, Sung Ho SH; Kim, Myoung Shin MS; Lee, Jinseon J; Jeon, Byung Hee BH

Publication Date: 2017-06

Variant appearance in text: NOTCH1: V1578delV

PubMed Link: 28599463

Variant Present in the following documents:

• Main text
• ol-13-06-4627.pdf

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Presence of cancer-associated mutations in exhaled breath condensates of healthy individuals by next generation sequencing.

Oncotarget

Youssef, Omar O; Knuuttila, Aija A; Piirilä, Päivi P; Böhling, Tom T; Sarhadi, Virinder V; Knuutila, Sakari S

Publication Date: 2017-03-14

Variant appearance in text: NOTCH1: V1578delV

PubMed Link: 28199989

Variant Present in the following documents:

• Main text

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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: 4732_4734del

PubMed Link: 28157215

Variant Present in the following documents:

• bcj20173x11.xlsx, sheet 1

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Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics

Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S

Publication Date: 2016-12

Variant appearance in text: NOTCH1: 4721_4723delTGG; V1575del

PubMed Link: 27997549

Variant Present in the following documents:

• pgen.1006501.s002.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: V1578del

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: 4732_4734delGTG; V1578delV

PubMed Link: 27698851

Variant Present in the following documents:

• Main text

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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: 4732_4734delGTG; V1578delV

PubMed Link: 27347093

Variant Present in the following documents:

• Main text
• ol-12-01-0016.pdf

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Less frequently mutated genes in colorectal cancer: evidences from next-generation sequencing of 653 routine cases.

Journal Of Clinical Pathology

Malapelle, Umberto U; Pisapia, Pasquale P; Sgariglia, Roberta R; Vigliar, Elena E; Biglietto, Maria M; Carlomagno, Chiara C; Giuffrè, Giuseppe G; Bellevicine, Claudio C; Troncone, Giancarlo G

Publication Date: 2016-09

Variant appearance in text: NOTCH1: V1578delV

PubMed Link: 26797410

Variant Present in the following documents:

• jclinpath-2015-203403-s2.pdf

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Genomic landscape of salivary gland tumors.

Oncotarget

Kato, Shumei S; Elkin, Sheryl K SK; Schwaederle, Maria M; Tomson, Brett N BN; Helsten, Teresa T; Carter, Jennifer L JL; Kurzrock, Razelle R

Publication Date: 2015-09-22

Variant appearance in text: NOTCH1: V1578del

PubMed Link: 26247885

Variant Present in the following documents:

• oncotarget-06-25631-s002.xlsx, sheet 1

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Targeted next generation sequencing of parotid gland cancer uncovers genetic heterogeneity.

Oncotarget

Grünewald, Inga I; Vollbrecht, Claudia C; Meinrath, Jeannine J; Meyer, Moritz F MF; Heukamp, Lukas C LC; Drebber, Uta U; Quaas, Alexander A; Beutner, Dirk D; Hüttenbrink, Karl-Bernd KB; Wardelmann, Eva E; Hartmann, Wolfgang W; Büttner, Reinhard R; Odenthal, Margarete M; Stenner, Markus M

Publication Date: 2015-07-20

Variant appearance in text: NOTCH1: 4732_4734delGTG; V1578del

PubMed Link: 26053092

Variant Present in the following documents:

• Main text
• oncotarget-06-18224-s001.pdf
• oncotarget-06-18224.pdf

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