Publications:

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An integrated genetic analysis of epileptogenic brain malformed lesions.

Acta Neuropathologica Communications

Fujita, Atsushi A; Kato, Mitsuhiro M; Sugano, Hidenori H; Iimura, Yasushi Y; Suzuki, Hiroharu H; Tohyama, Jun J; Fukuda, Masafumi M; Ito, Yosuke Y; Baba, Shimpei S; Okanishi, Tohru T; Enoki, Hideo H; Fujimoto, Ayataka A; Yamamoto, Akiyo A; Kawamura, Kentaro K; Kato, Shinsuke S; Honda, Ryoko R; Ono, Tomonori T; Shiraishi, Hideaki H; Egawa, Kiyoshi K; Shirai, Kentaro K; Yamamoto, Shinji S; Hayakawa, Itaru I; Kawawaki, Hisashi H; Saida, Ken K; Tsuchida, Naomi N; Uchiyama, Yuri Y; Hamanaka, Kohei K; Miyatake, Satoko S; Mizuguchi, Takeshi T; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Miyake, Noriko N; Kakita, Akiyoshi A; Matsumoto, Naomichi N

Publication Date: 2023-03-02

Variant appearance in text: MTOR: Ser2215Phe

PubMed Link: 36864519

Variant Present in the following documents:

• Main text
• 40478_2023_1532_MOESM1_ESM.pdf
• 40478_2023_Article_1532.pdf

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: MTOR: S2215F; rs587777894

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Epigenomic charting and functional annotation of risk loci in renal cell carcinoma.

Nature Communications

Nassar, Amin H AH; Abou Alaiwi, Sarah S; Baca, Sylvan C SC; Adib, Elio E; Corona, Rosario I RI; Seo, Ji-Heui JH; Fonseca, Marcos A S MAS; Spisak, Sandor S; El Zarif, Talal T; Tisza, Viktoria V; Braun, David A DA; Du, Heng H; He, Monica M; Flaifel, Abdallah A; Alchoueiry, Michel M; Denize, Thomas T; Matar, Sayed G SG; Acosta, Andres A; Shukla, Sachet S; Hou, Yue Y; Steinharter, John J; Bouchard, Gabrielle G; Berchuck, Jacob E JE; O'Connor, Edward E; Bell, Connor C; Nuzzo, Pier Vitale PV; Mary Lee, Gwo-Shu GS; Signoretti, Sabina S; Hirsch, Michelle S MS; Pomerantz, Mark M; Henske, Elizabeth E; Gusev, Alexander A; Lawrenson, Kate K; Choueiri, Toni K TK; Kwiatkowski, David J DJ; Freedman, Matthew L ML

Publication Date: 2023-01-21

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 36681680

Variant Present in the following documents:

• 41467_2023_35833_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.

Neurology. Genetics

Straka, Barbora B; Hermanovska, Barbora B; Krskova, Lenka L; Zamecnik, Josef J; Vlckova, Marketa M; Balascakova, Miroslava M; Tesner, Pavel P; Jezdik, Petr P; Tichy, Michal M; Kyncl, Martin M; Musilova, Alena A; Lassuthova, Petra P; Marusic, Petr P; Krsek, Pavel P

Publication Date: 2022-10

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 36324633

Variant Present in the following documents:

• NXG-2022-200035.pdf

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: MTOR: 6644C>T; S2215F

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal

Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-07-04

Variant appearance in text: MTOR: S2215F; rs587777894

PubMed Link: 35788129

Variant Present in the following documents:

• 41408_2022_699_MOESM3_ESM.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: MTOR: S2215F

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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Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: MTOR: S2215F

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10

View BVdb publication page

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CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

International Journal Of Molecular Sciences

Mayo, Sonia S; Gómez-Manjón, Irene I; Fernández-Martínez, Francisco Javier FJ; Camacho, Ana A; Martínez, Francisco F; Benito-León, Julián J

Publication Date: 2022-04-28

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 35563270

Variant Present in the following documents:

• ijms-23-04879.pdf

View BVdb publication page

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: MTOR: S2215F

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics

Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R

Publication Date: 2022-04-25

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM4_ESM.xlsx, sheet 1
• 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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PI3K/Akt/mTOR Pathway and Its Role in Cancer Therapeutics: Are We Making Headway?

Frontiers In Oncology

Peng, Yan Y; Wang, Yuanyuan Y; Zhou, Cheng C; Mei, Wuxuan W; Zeng, Changchun C

Publication Date: 2022

Variant appearance in text: MTOR: S2215F

PubMed Link: 35402264

Variant Present in the following documents:

• Main text
• fonc-12-819128.pdf

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Precision medicine-based therapies in advanced colorectal cancer: The University of California San Diego Molecular Tumor Board experience.

Molecular Oncology

Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Lee, Suzanna S; Okamura, Ryosuke R; Fanta, Paul T PT; Kurzrock, Razelle R

Publication Date: 2022-07

Variant appearance in text: MTOR: S2215F

PubMed Link: 35238467

Variant Present in the following documents:

• MOL2-16-2575-s001.xlsx, sheet 1

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: MTOR: S2215F

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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: MTOR: S2215F

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6

View BVdb publication page

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: MTOR: 6644C>T

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: MTOR: 6644C>T

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs587777894

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs587777894

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer

Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ

Publication Date: 2022-01-05

Variant appearance in text: MTOR: S2215F

PubMed Link: 34986841

Variant Present in the following documents:

• 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer

Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ

Publication Date: 2022-01-05

Variant appearance in text: MTOR: S2215F

PubMed Link: 34986841

Variant Present in the following documents:

• 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.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: MTOR: S2215F

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Nature Communications

Sun, Hua H; Cao, Song S; Mashl, R Jay RJ; Mo, Chia-Kuei CK; Zaccaria, Simone S; Wendl, Michael C MC; Davies, Sherri R SR; Bailey, Matthew H MH; Primeau, Tina M TM; Hoog, Jeremy J; Mudd, Jacqueline L JL; Dean, Dennis A DA; Patidar, Rajesh R; Chen, Li L; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka G RG; Rodrigues, Fernanda Martins FM; Terekhanova, Nadezhda V NV; Li, Yize Y; Lim, Kian-Huat KH; Wang-Gillam, Andrea A; Van Tine, Brian A BA; Ma, Cynthia X CX; Aft, Rebecca R; Fuh, Katherine C KC; Schwarz, Julie K JK; Zevallos, Jose P JP; Puram, Sidharth V SV; Dipersio, John F JF; , ; Davis-Dusenbery, Brandi B; Ellis, Matthew J MJ; Lewis, Michael T MT; Davies, Michael A MA; Herlyn, Meenhard M; Fang, Bingliang B; Roth, Jack A JA; Welm, Alana L AL; Welm, Bryan E BE; Meric-Bernstam, Funda F; Chen, Feng F; Fields, Ryan C RC; Li, Shunqiang S; Govindan, Ramaswamy R; Doroshow, James H JH; Moscow, Jeffrey A JA; Evrard, Yvonne A YA; Chuang, Jeffrey H JH; Raphael, Benjamin J BJ; Ding, Li L

Publication Date: 2021-08-24

Variant appearance in text: MTOR: S2215F

PubMed Link: 34429404

Variant Present in the following documents:

• 41467_2021_25177_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.

Diagnostics (Basel, Switzerland)

Szczałuba, Krzysztof K; Rydzanicz, Małgorzata M; Walczak, Anna A; Kosińska, Joanna J; Koppolu, Agnieszka A; Biernacka, Anna A; Iwanicka-Pronicka, Katarzyna K; Grajkowska, Wiesława W; Jurkiewicz, Elżbieta E; Kowalczyk, Paweł P; Płoski, Rafał R

Publication Date: 2021-07-15

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 34359351

Variant Present in the following documents:

• Main text
• diagnostics-11-01269.pdf

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: MTOR: S2215F

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
• 41525_2021_Article_226.pdf

View BVdb publication page

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Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.

Plos Genetics

Besterman, Aaron D AD; Althoff, Thorsten T; Elfferich, Peter P; Gutierrez-Mejia, Irma I; Sadik, Joshua J; Bernstein, Jonathan A JA; van Ierland, Yvette Y; Kattentidt-Mouravieva, Anja A AA; Nellist, Mark M; Abramson, Jeff J; Martinez-Agosto, Julian A JA

Publication Date: 2021-07

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 34197453

Variant Present in the following documents:

• Main text
• pgen.1009651.pdf

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: MTOR: S2215F

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 6

View BVdb publication page

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Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Frontiers In Endocrinology

Hu, Ya Y; Zhang, Xiang X; Wang, Ou O; Cui, Ming M; Li, Xiaobin X; Wang, Mengyi M; Hua, Surong S; Liao, Quan Q

Publication Date: 2021

Variant appearance in text: MTOR: S2215F

PubMed Link: 34054720

Variant Present in the following documents:

• Main text
• fendo-12-631680.pdf
• Table_1.xlsx, sheet 1

View BVdb publication page

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Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas.

Journal Of Personalized Medicine

Juan Ribelles, Antonio A; Gargallo, Pablo P; Berlanga, Pablo P; Segura, Vanessa V; Yáñez, Yania Y; Juan, Bárbara B; Salom, Marta M; Llavador, Margarita M; Font de Mora, Jaime J; Castel, Victoria V; Cañete, Adela A

Publication Date: 2021-04-03

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 33916788

Variant Present in the following documents:

• Main text

View BVdb publication page

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Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.

Frontiers In Neuroanatomy

Nguyen, Lena H LH; Bordey, Angélique A

Publication Date: 2021

Variant appearance in text: MTOR: S2215F

PubMed Link: 33897381

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Carmignac, Virginie V; Mignot, Cyril C; Blanchard, Emmanuelle E; Kuentz, Paul P; Aubriot-Lorton, Marie-Hélène MH; Parker, Victoria E R VER; Sorlin, Arthur A; Fraitag, Sylvie S; Courcet, Jean-Benoît JB; Duffourd, Yannis Y; Rodriguez, Diana D; Knox, Rachel G RG; Polubothu, Satyamaanasa S; Boland, Anne A; Olaso, Robert R; Delepine, Marc M; Darmency, Véronique V; Riachi, Melissa M; Quelin, Chloé C; Rollier, Paul P; Goujon, Louise L; Grotto, Sarah S; Capri, Yline Y; Jacquemont, Marie-Line ML; Odent, Sylvie S; Amram, Daniel D; Chevarin, Martin M; Vincent-Delorme, Catherine C; Catteau, Benoît B; Guibaud, Laurent L; Arzimanoglou, Alexis A; Keddar, Malika M; Sarret, Catherine C; Callier, Patrick P; Bessis, Didier D; Geneviève, David D; Deleuze, Jean-François JF; Thauvin, Christel C; Semple, Robert K RK; Philippe, Christophe C; Rivière, Jean-Baptiste JB; Kinsler, Veronica A VA; Faivre, Laurence L; Vabres, Pierre P

Publication Date: 2021-08

Variant appearance in text: MTOR: Ser2215Phe

PubMed Link: 33833411

Variant Present in the following documents:

• 41436_2021_1161_MOESM1_ESM.pdf

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Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.

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

Adib, Elio E; Klonowska, Katarzyna K; Giannikou, Krinio K; Do, Khanh T KT; Pruitt-Thompson, Solida S; Bhushan, Ketki K; Milstein, Matthew I MI; Hedglin, Jennifer J; Kargus, Katherine E KE; Sholl, Lynette M LM; Tsuji, Junko J; Hyman, David M DM; Sisk, Anne A; Shapiro, Geoffrey I GI; Vargas, Hebert A HA; Harding, James J JJ; Voss, Martin H MH; Iyer, Gopa G; Kwiatkowski, David J DJ

Publication Date: 2021-07-15

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 33727259

Variant Present in the following documents:

• Main text

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easyCLIP analysis of RNA-protein interactions incorporating absolute quantification.

Nature Communications

Porter, Douglas F DF; Miao, Weili W; Yang, Xue X; Goda, Grant A GA; Ji, Andrew L AL; Donohue, Laura K H LKH; Aleman, Maria M MM; Dominguez, Daniel D; Khavari, Paul A PA

Publication Date: 2021-03-10

Variant appearance in text: MTOR: S2215F

PubMed Link: 33692367

Variant Present in the following documents:

• 41467_2021_21623_MOESM1_ESM.pdf

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The prognostic value of longitudinal circulating tumor DNA profiling during osimertinib treatment.

Translational Lung Cancer Research

Ma, Shenglin S; Shi, Meiqi M; Chen, Xueqin X; Wang, Yong Y; Yang, Zhenhua Z; Lizaso, Analyn A; Li, Min M; Li, Haiyan H; Zhang, Lu L; Mao, Xinru X; Xu, Xingxiang X; Song, Yong Y

Publication Date: 2021-01

Variant appearance in text: MTOR: S2215F

PubMed Link: 33569316

Variant Present in the following documents:

• tlcr-10-01-326-supplementary.pdf

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Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.

Frontiers In Neuroscience

Jesus-Ribeiro, Joana J; Pires, Luís Miguel LM; Melo, João Daniel JD; Ribeiro, Ilda Patrícia IP; Rebelo, Olinda O; Sales, Francisco F; Freire, António A; Melo, Joana Barbosa JB

Publication Date: 2020

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 33551717

Variant Present in the following documents:

• Main text

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Diverse mechanisms activate the PI 3-kinase/mTOR pathway in melanomas: implications for the use of PI 3-kinase inhibitors to overcome resistance to inhibitors of BRAF and MEK.

Bmc Cancer

Tran, Khanh B KB; Kolekar, Sharada S; Jabed, Anower A; Jaynes, Patrick P; Shih, Jen-Hsing JH; Wang, Qian Q; Flanagan, Jack U JU; Rewcastle, Gordon W GW; Baguley, Bruce C BC; Shepherd, Peter R PR

Publication Date: 2021-02-06

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 33549048

Variant Present in the following documents:

• 12885_2021_7826_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

Neurology. Genetics

Guerrini, Renzo R; Cavallin, Mara M; Pippucci, Tommaso T; Rosati, Anna A; Bisulli, Francesca F; Dimartino, Paola P; Barba, Carmen C; Garbelli, Rita R; Buccoliero, Anna Maria AM; Tassi, Laura L; Conti, Valerio V

Publication Date: 2021-02

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 33542949

Variant Present in the following documents:

• Main text
• NG2020014993.pdf

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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: MTOR: 6644C>T; S2215F

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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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs587777894

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine

Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL

Publication Date: 2020-10

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 32927274

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications.

Frontiers In Molecular Biosciences

Vanni, Irene I; Tanda, Enrica Teresa ET; Dalmasso, Bruna B; Pastorino, Lorenza L; Andreotti, Virginia V; Bruno, William W; Boutros, Andrea A; Spagnolo, Francesco F; Ghiorzo, Paola P

Publication Date: 2020

Variant appearance in text: MTOR: S2215F

PubMed Link: 32850962

Variant Present in the following documents:

• Main text

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Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment

Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH

Publication Date: 2021-01

Variant appearance in text: MTOR: S2215F

PubMed Link: 32810930

Variant Present in the following documents:

• crt-2020-559-suppl3.pdf

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A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr

Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC

Publication Date: 2020-07-31

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 32736587

Variant Present in the following documents:

• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 3
• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1

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Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine

Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R

Publication Date: 2020-07-09

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 32646514

Variant Present in the following documents:

• 13073_2020_753_MOESM2_ESM.xlsx, 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: MTOR: S2215F

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: MTOR: S2215F

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer

Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A

Publication Date: 2020-04-07

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Journal For Immunotherapy Of Cancer

Labriola, Matthew Kyle MK; Zhu, Jason J; Gupta, Rajan T RT; McCall, Shannon S; Jackson, Jennifer J; Kong, Eric F EF; White, James R JR; Cerqueira, Gustavo G; Gerding, Kelly K; Simmons, John K JK; George, Daniel D; Zhang, Tian T

Publication Date: 2020-03

Variant appearance in text: MTOR: S2215F

PubMed Link: 32221016

Variant Present in the following documents:

• jitc-2019-000319supp001.xlsx, sheet 1

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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: MTOR: S2215F

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer.

Journal Of Clinical Medicine

Casas-Arozamena, Carlos C; Díaz, Eva E; Moiola, Cristian Pablo CP; Alonso-Alconada, Lorena L; Ferreirós, Alba A; Abalo, Alicia A; Gil, Carlos López CL; Oltra, Sara S SS; de Santiago, Javier J; Cabrera, Silvia S; Sampayo, Victoria V; Bouso, Marta M; Arias, Efigenia E; Cueva, Juan J; Colas, Eva E; Vilar, Ana A; Gil-Moreno, Antonio A; Abal, Miguel M; Moreno-Bueno, Gema G; Muinelo-Romay, Laura L

Publication Date: 2020-02-21

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 32098121

Variant Present in the following documents:

• jcm-09-00585-s001.pdf

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: MTOR: 6644C>T; S2215F

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1

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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: MTOR: 6644C>T; S2215F

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 14
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 4

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Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: MTOR: S2215F

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: MTOR: S2215F

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: MTOR: Ser2215Phe

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Acta Neuropathologica

Baldassari, Sara S; Ribierre, Théo T; Marsan, Elise E; Adle-Biassette, Homa H; Ferrand-Sorbets, Sarah S; Bulteau, Christine C; Dorison, Nathalie N; Fohlen, Martine M; Polivka, Marc M; Weckhuysen, Sarah S; Dorfmüller, Georg G; Chipaux, Mathilde M; Baulac, Stéphanie S

Publication Date: 2019-12

Variant appearance in text: MTOR: 6644C>T; Ser2215Phe

PubMed Link: 31444548

Variant Present in the following documents:

• Main text
• 401_2019_Article_2061.pdf

View BVdb publication page

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