Publications:

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: NOTCH1: E424K

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: NOTCH1: E424K

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Oral cancer prediction by noninvasive genetic screening.

International Journal Of Cancer

Poell, Jos B JB; Wils, Leon J LJ; Brink, Arjen A; Dietrich, Ralf R; Krieg, Christine C; Velleuer, Eunike E; Evren, Ilkay I; Brouns, Elisabeth R ER; de Visscher, Jan G JG; Bloemena, Elisabeth E; Ylstra, Bauke B; Brakenhoff, Ruud H RH

Publication Date: 2023-01-15

Variant appearance in text: NOTCH1: Glu424Lys

PubMed Link: 36069231

Variant Present in the following documents:

• IJC-152-227-s001.pdf

View BVdb publication page

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The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)

Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q

Publication Date: 2022-10

Variant appearance in text: NOTCH1: E424K

PubMed Link: 35926241

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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A clinically annotated post-mortem approach to study multi-organ somatic mutational clonality in normal tissues.

Scientific Reports

Luijts, Tom T; Elliott, Kerryn K; Siaw, Joachim Tetteh JT; Van de Velde, Joris J; Beyls, Elien E; Claeys, Arne A; Lammens, Tim T; Larsson, Erik E; Willaert, Wouter W; Vral, Anne A; Van den Eynden, Jimmy J

Publication Date: 2022-06-20

Variant appearance in text: NOTCH1: E424K

PubMed Link: 35725896

Variant Present in the following documents:

• 41598_2022_14240_MOESM2_ESM.xls, sheet 2

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: E424K

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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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: NOTCH1: 1270G>A; E424K

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))

Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L

Publication Date: 2022-05-10

Variant appearance in text: NOTCH1: 1270G>A; E424K

PubMed Link: 35509869

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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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: 1270G>A; E424K

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: NOTCH1: E424K

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4

View BVdb publication page

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Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders.

Jid Innovations

Abdulla, Farah R FR; Zhang, Weiwei W; Wu, Xiwei X; Honda, Kord K; Qin, Hanjun H; Cho, Hyejin H; Querfeld, Christiane C; Zain, Jasmine J; Rosen, Steven Terry ST; Chan, Wing C WC; Parekh, Vishwas V; Song, Joo Y JY

Publication Date: 2022-01

Variant appearance in text: NOTCH1: E424K

PubMed Link: 34977845

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders.

Jid Innovations : Skin Science From Molecules To Population Health

Abdulla, Farah R FR; Zhang, Weiwei W; Wu, Xiwei X; Honda, Kord K; Qin, Hanjun H; Cho, Hyejin H; Querfeld, Christiane C; Zain, Jasmine J; Rosen, Steven Terry ST; Chan, Wing C WC; Parekh, Vishwas V; Song, Joo Y JY

Publication Date: 2022-01

Variant appearance in text: NOTCH1: E424K

PubMed Link: 34977845

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: NOTCH1: 1270G>A; Glu424Lys

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

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Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology

Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021

Variant appearance in text: NOTCH1: 1270G>A; E424K

PubMed Link: 34712610

Variant Present in the following documents:

• DataSheet_1.xls, sheet 4

View BVdb publication page

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Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Plos One

Cui, Ying Y; Kim, Hae-Suk HS; Cho, Eunae Sandra ES; Han, Dawool D; Park, Jung Ah JA; Park, Ju Yeong JY; Nam, Woong W; Kim, Hyung Jun HJ; Cha, In-Ho IH; Cha, Yong Hoon YH

Publication Date: 2021

Variant appearance in text: NOTCH1: 1270G>A; Glu424Lys

PubMed Link: 34478472

Variant Present in the following documents:

• pone.0256979.s005.xlsx, sheet 1

View BVdb publication page

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Molecular alterations in basal cell carcinoma subtypes.

Scientific Reports

Di Nardo, Lucia L; Pellegrini, Cristina C; Di Stefani, Alessandro A; Ricci, Francesco F; Fossati, Barbara B; Del Regno, Laura L; Carbone, Carmine C; Piro, Geny G; Corbo, Vincenzo V; Delfino, Pietro P; De Summa, Simona S; Maturo, Maria Giovanna MG; Rocco, Tea T; Tortora, Giampaolo G; Fargnoli, Maria Concetta MC; Peris, Ketty K

Publication Date: 2021-06-24

Variant appearance in text: NOTCH1: 1270G>A; Glu424Lys

PubMed Link: 34168209

Variant Present in the following documents:

• 41598_2021_92592_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.

Science Advances

Wei, Lei L; Christensen, Sean R SR; Fitzgerald, Megan E ME; Graham, James J; Hutson, Nicholas D ND; Zhang, Chi C; Huang, Ziyun Z; Hu, Qiang Q; Zhan, Fenglin F; Xie, Jun J; Zhang, Jianmin J; Liu, Song S; Remenyik, Eva E; Gellen, Emese E; Colegio, Oscar R OR; Bax, Michael M; Xu, Jinhui J; Lin, Haifan H; Huss, Wendy J WJ; Foster, Barbara A BA; Paragh, Gyorgy G

Publication Date: 2021-01

Variant appearance in text: NOTCH1: E424K

PubMed Link: 33523857

Variant Present in the following documents:

• Main text
• abd7703.pdf

View BVdb publication page

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Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.

Science Advances

Wei, Lei L; Christensen, Sean R SR; Fitzgerald, Megan E ME; Graham, James J; Hutson, Nicholas D ND; Zhang, Chi C; Huang, Ziyun Z; Hu, Qiang Q; Zhan, Fenglin F; Xie, Jun J; Zhang, Jianmin J; Liu, Song S; Remenyik, Eva E; Gellen, Emese E; Colegio, Oscar R OR; Bax, Michael M; Xu, Jinhui J; Lin, Haifan H; Huss, Wendy J WJ; Foster, Barbara A BA; Paragh, Gyorgy G

Publication Date: 2021-01

Variant appearance in text: NOTCH1: E424K

PubMed Link: 33523857

Variant Present in the following documents:

• Main text
• abd7703.pdf

View BVdb publication page

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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: 1270G>A; E424K

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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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: 1270G>A; E424K

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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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: NOTCH1: E424K

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: NOTCH1: E424K

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: NOTCH1: E424K

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 2

View BVdb publication page

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Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Science Advances

Li, Ziyu Z; Gao, Xiangyu X; Peng, Xinxin X; May Chen, Mei-Ju MJ; Li, Zhe Z; Wei, Bin B; Wen, Xianzi X; Wei, Baoye B; Dong, Yu Y; Bu, Zhaode Z; Wu, Aiwen A; Wu, Qi Q; Tang, Lei L; Li, Zhongwu Z; Liu, Yiqiang Y; Zhang, Li L; Jia, Shuqin S; Zhang, Lianhai L; Shan, Fei F; Zhang, Ji J; Wu, Xiaojiang X; Ji, Xin X; Ji, Ke K; Wu, Xiaolong X; Shi, Jinyao J; Xing, Xiaofang X; Wu, Jianmin J; Lv, Guoqing G; Shen, Lin L; Ji, Xuwo X; Liang, Han H; Ji, Jiafu J

Publication Date: 2020-02

Variant appearance in text: NOTCH1: E424K

PubMed Link: 32133402

Variant Present in the following documents:

• aay4211_Table_S2.xlsx, sheet 1

View BVdb publication page

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Tobacco smoking and somatic mutations in human bronchial epithelium.

Nature

Yoshida, Kenichi K; Gowers, Kate H C KHC; Lee-Six, Henry H; Chandrasekharan, Deepak P DP; Coorens, Tim T; Maughan, Elizabeth F EF; Beal, Kathryn K; Menzies, Andrew A; Millar, Fraser R FR; Anderson, Elizabeth E; Clarke, Sarah E SE; Pennycuick, Adam A; Thakrar, Ricky M RM; Butler, Colin R CR; Kakiuchi, Nobuyuki N; Hirano, Tomonori T; Hynds, Robert E RE; Stratton, Michael R MR; Martincorena, Iñigo I; Janes, Sam M SM; Campbell, Peter J PJ

Publication Date: 2020-02

Variant appearance in text: NOTCH1: E424K

PubMed Link: 31996850

Variant Present in the following documents:

• EMS85334-supplement-Supplementary_Tables_1_5.xlsx, sheet 5

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: NOTCH1: 1270G>A; E424K

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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YAP1 amplification as a prognostic factor of definitive chemoradiotherapy in nonsurgical esophageal squamous cell carcinoma.

Cancer Medicine

Dai, Honghai H; Shao, Yang W YW; Tong, Xiaoling X; Wu, Xue X; Pang, Jiaohui J; Feng, Alei A; Yang, Zhe Z

Publication Date: 2020-03

Variant appearance in text: NOTCH1: E424K

PubMed Link: 31851786

Variant Present in the following documents:

• CAM4-9-1628-s002.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: NOTCH1: 1270G>A; E424K

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Medicine

Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM

Publication Date: 2017-04-19

Variant appearance in text: NOTCH1: E424K

PubMed Link: 28420421

Variant Present in the following documents:

• 13073_2017_424_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational studies on single circulating tumor cells isolated from the blood of inflammatory breast cancer patients.

Breast Cancer Research And Treatment

Bingham, Catherine C; Fernandez, Sandra V SV; Fittipaldi, Patricia P; Dempsey, Paul W PW; Ruth, Karen J KJ; Cristofanilli, Massimo M; Katherine Alpaugh, R R

Publication Date: 2017-06

Variant appearance in text: NOTCH1: E424K

PubMed Link: 28271309

Variant Present in the following documents:

• 10549_2017_Article_4176.pdf

View BVdb publication page

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Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Nature Communications

Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ

Publication Date: 2016-08-25

Variant appearance in text: NOTCH1: E424K

PubMed Link: 27558455

Variant Present in the following documents:

• ncomms12493-s14.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NOTCH1: 1270G>A; E424K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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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: E424K

PubMed Link: 27228302

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.

Gigascience

Cheng, Caixia C; Cui, Heyang H; Zhang, Ling L; Jia, Zhiwu Z; Song, Bin B; Wang, Fang F; Li, Yaoping Y; Liu, Jing J; Kong, Pengzhou P; Shi, Ruyi R; Bi, Yanghui Y; Yang, Bin B; Wang, Juan J; Zhao, Zhenxiang Z; Zhang, Yanyan Y; Hu, Xiaoling X; Yang, Jie J; He, Chanting C; Zhao, Zhiping Z; Wang, Jinfen J; Xi, Yanfeng Y; Xu, Enwei E; Li, Guodong G; Guo, Shiping S; Chen, Yunqing Y; Yang, Xiaofeng X; Chen, Xing X; Liang, Jianfang J; Guo, Jiansheng J; Cheng, Xiaolong X; Wang, Chuangui C; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2016

Variant appearance in text: NOTCH1: 1270G>A; E424K

PubMed Link: 26759717

Variant Present in the following documents:

• 13742_2015_107_MOESM11_ESM.xlsx, sheet 1
• 13742_2015_107_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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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: E424K

PubMed Link: 26247885

Variant Present in the following documents:

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

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: NOTCH1: E424K

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

American Journal Of Human Genetics

Zhang, Ling L; Zhou, Yong Y; Cheng, Caixia C; Cui, Heyang H; Cheng, Le L; Kong, Pengzhou P; Wang, Jiaqian J; Li, Yin Y; Chen, Wenliang W; Song, Bin B; Wang, Fang F; Jia, Zhiwu Z; Li, Lin L; Li, Yaoping Y; Yang, Bin B; Liu, Jing J; Shi, Ruyi R; Bi, Yanghui Y; Zhang, Yanyan Y; Wang, Juan J; Zhao, Zhenxiang Z; Hu, Xiaoling X; Yang, Jie J; Li, Hongyi H; Gao, Zhibo Z; Chen, Gang G; Huang, Xuanlin X; Yang, Xukui X; Wan, Shengqing S; Chen, Chao C; Li, Bin B; Tan, Yongkai Y; Chen, Longyun L; He, Minghui M; Xie, Sha S; Li, Xiangchun X; Zhuang, Xuehan X; Wang, Mengyao M; Xia, Zhi Z; Luo, Longhai L; Ma, Jie J; Dong, Bing B; Zhao, Jiuzhou J; Song, Yongmei Y; Ou, Yunwei Y; Li, Enming E; Xu, Liyan L; Wang, Jinfen J; Xi, Yanfeng Y; Li, Guodong G; Xu, Enwei E; Liang, Jianfang J; Yang, Xiaofeng X; Guo, Jiansheng J; Chen, Xing X; Zhang, Yanbo Y; Li, Qingshan Q; Liu, Lixin L; Li, Yingrui Y; Zhang, Xiuqing X; Yang, Huanming H; Lin, Dongxin D; Cheng, Xiaolong X; Guo, Yongjun Y; Wang, Jun J; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2015-04-02

Variant appearance in text: NOTCH1: 1270G>A; E424K

PubMed Link: 25839328

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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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: E424K

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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Notch1 mutations are drivers of oral tumorigenesis.

Cancer Prevention Research (Philadelphia, Pa.)

Izumchenko, Evgeny E; Sun, Kai K; Jones, Sian S; Brait, Mariana M; Agrawal, Nishant N; Koch, Wayne W; McCord, Christine L CL; Riley, David R DR; Angiuoli, Samuel V SV; Velculescu, Victor E VE; Jiang, Wei-Wen WW; Sidransky, David D

Publication Date: 2015-04

Variant appearance in text: NOTCH1: E424K

PubMed Link: 25406187

Variant Present in the following documents:

• Main text

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