Publications:

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: NF2: R198X

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: NF2: 592C>T; R198*

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

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Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.

Frontiers In Oncology

Kim, Junhyung J; Hwang, Kihwan K; Kwon, Hyun Jung HJ; Lee, Ji Eun JE; Lee, Kyu Sang KS; Choe, Gheeyoung G; Han, Jung Ho JH; Kim, Chae-Yong CY

Publication Date: 2022

Variant appearance in text: NF2: 592C>T; R198*; rs1555993345

PubMed Link: 35774130

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1
• DataSheet_2.xlsx, sheet 2

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Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.

Scientific Reports

Teranishi, Yu Y; Miyawaki, Satoru S; Nakatomi, Hirofumi H; Ohara, Kenta K; Hongo, Hiroki H; Dofuku, Shogo S; Okano, Atsushi A; Takayanagi, Shunsaku S; Ota, Takahiro T; Yoshimura, Jun J; Qu, Wei W; Mitsui, Jun J; Morishita, Shinichi S; Tsuji, Shoji S; Saito, Nobuhito N

Publication Date: 2022-06-09

Variant appearance in text: NF2: 592C>T

PubMed Link: 35681071

Variant Present in the following documents:

• Main text
• 41598_2022_Article_13580.pdf
• 41598_2022_13580_MOESM1_ESM.pdf

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Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma.

Genome Medicine

Creaney, Jenette J; Patch, Ann-Marie AM; Addala, Venkateswar V; Sneddon, Sophie A SA; Nones, Katia K; Dick, Ian M IM; Lee, Y C Gary YCG; Newell, Felicity F; Rouse, Ebony J EJ; Naeini, Marjan M MM; Kondrashova, Olga O; Lakis, Vanessa V; Nakas, Apostolos A; Waller, David D; Sharkey, Annabel A; Mukhopadhyay, Pamela P; Kazakoff, Stephen H SH; Koufariotis, Lambros T LT; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Holmes, Oliver O; Xu, Qinying Q; Leonard, Conrad C; Wood, Scott S; Grimmond, Sean M SM; Bueno, Raphael R; Fennell, Dean A DA; Pearson, John V JV; Robinson, Bruce W BW; Waddell, Nicola N

Publication Date: 2022-05-30

Variant appearance in text: NF2: 592C>T

PubMed Link: 35637530

Variant Present in the following documents:

• 13073_2022_1060_MOESM4_ESM.xlsx, sheet 1

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2021-07-13

Variant appearance in text: NF2: 592C>T; R198*

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2022-02

Variant appearance in text: NF2: 592C>T; R198*

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: NF2: R198*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: NF2: 592C>T; R198*

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

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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: NF2: 592C>T; R198*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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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: NF2: R198*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers

Hamid, Abdulaziz B AB; Petreaca, Ruben C RC

Publication Date: 2020-04-09

Variant appearance in text: NF2: R198*

PubMed Link: 32283832

Variant Present in the following documents:

• Main text
• cancers-12-00927.pdf
• cancers-12-00927-s001.pdf

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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: NF2: 592C>T; R198*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: NF2: R198*

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

Neuro-Oncology

Louvrier, Camille C; Pasmant, Eric E; Briand-Suleau, Audrey A; Cohen, Joëlle J; Nitschké, Patrick P; Nectoux, Juliette J; Orhant, Lucie L; Zordan, Cécile C; Goizet, Cyril C; Goutagny, Stéphane S; Lallemand, Dominique D; Vidaud, Michel M; Vidaud, Dominique D; Kalamarides, Michel M; Parfait, Béatrice B

Publication Date: 2018-06-18

Variant appearance in text: NF2: 592C>T; Arg198*

PubMed Link: 29409008

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: NF2: 592C>T; R198*

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: NF2: R198*

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

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TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.

Oncotarget

Gray, Phillip N PN; Vuong, Huy H; Tsai, Pei P; Lu, Hsaio-Mei HM; Mu, Wenbo W; Hsuan, Vickie V; Hoo, Jayne J; Shah, Swati S; Uyeda, Lisa L; Fox, Susanne S; Patel, Harshil H; Janicek, Mike M; Brown, Sandra S; Dobrea, Lavinia L; Wagman, Lawrence L; Plimack, Elizabeth E; Mehra, Ranee R; Golemis, Erica A EA; Bilusic, Marijo M; Zibelman, Matthew M; Elliott, Aaron A

Publication Date: 2016-10-18

Variant appearance in text: NF2: 592C>T; R198*

PubMed Link: 27626691

Variant Present in the following documents:

• Main text
• oncotarget-07-68206.pdf

View BVdb publication page

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Detection of tumor-derived DNA in cerebrospinal fluid of patients with primary tumors of the brain and spinal cord.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Yuxuan Y; Springer, Simeon S; Zhang, Ming M; McMahon, K Wyatt KW; Kinde, Isaac I; Dobbyn, Lisa L; Ptak, Janine J; Brem, Henry H; Chaichana, Kaisorn K; Gallia, Gary L GL; Gokaslan, Ziya L ZL; Groves, Mari L ML; Jallo, George I GI; Lim, Michael M; Olivi, Alessandro A; Quinones-Hinojosa, Alfredo A; Rigamonti, Daniele D; Riggins, Greg J GJ; Sciubba, Daniel M DM; Weingart, Jon D JD; Wolinsky, Jean-Paul JP; Ye, Xiaobu X; Oba-Shinjo, Sueli Mieko SM; Marie, Suely K N SK; Holdhoff, Matthias M; Agrawal, Nishant N; Diaz, Luis A LA; Papadopoulos, Nickolas N; Kinzler, Kenneth W KW; Vogelstein, Bert B; Bettegowda, Chetan C

Publication Date: 2015-08-04

Variant appearance in text: NF2: 592C>T; R198X

PubMed Link: 26195750

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.

Plos One

Contini, Elisa E; Paganini, Irene I; Sestini, Roberta R; Candita, Luisa L; Capone, Gabriele Lorenzo GL; Barbetti, Lorenzo L; Falconi, Serena S; Frusconi, Sabrina S; Giotti, Irene I; Giuliani, Costanza C; Torricelli, Francesca F; Benelli, Matteo M; Papi, Laura L

Publication Date: 2015

Variant appearance in text: NF2: 592C>T

PubMed Link: 26066488

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic/molecular alterations of meningiomas and the signaling pathways targeted.

Oncotarget

Domingues, Patrícia P; González-Tablas, María M; Otero, Álvaro Á; Pascual, Daniel D; Ruiz, Laura L; Miranda, David D; Sousa, Pablo P; Gonçalves, Jesús María JM; Lopes, María Celeste MC; Orfao, Alberto A; Tabernero, María Dolores MD

Publication Date: 2015-05-10

Variant appearance in text: NF2: R198X

PubMed Link: 25965831

Variant Present in the following documents:

• Main text

View BVdb publication page

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Acquired resistance of EGFR-mutant lung adenocarcinomas to afatinib plus cetuximab is associated with activation of mTORC1.

Cell Reports

Pirazzoli, Valentina V; Nebhan, Caroline C; Song, Xiaoling X; Wurtz, Anna A; Walther, Zenta Z; Cai, Guoping G; Zhao, Zhongming Z; Jia, Peilin P; de Stanchina, Elisa E; Shapiro, Erik M EM; Gale, Molly M; Yin, Ruonan R; Horn, Leora L; Carbone, David P DP; Stephens, Philip J PJ; Miller, Vincent V; Gettinger, Scott S; Pao, William W; Politi, Katerina K

Publication Date: 2014-05-22

Variant appearance in text: NF2: 592C>T; R198*

PubMed Link: 24813888

Variant Present in the following documents:

• Main text

View BVdb publication page

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Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2.

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

Tanaka, Karo K; Eskin, Ascia A; Chareyre, Fabrice F; Jessen, Walter J WJ; Manent, Jan J; Niwa-Kawakita, Michiko M; Chen, Ruihong R; White, Cory H CH; Vitte, Jeremie J; Jaffer, Zahara M ZM; Nelson, Stanley F SF; Rubenstein, Allan E AE; Giovannini, Marco M

Publication Date: 2013-07-15

Variant appearance in text: NF2: 592C>T

PubMed Link: 23714726

Variant Present in the following documents:

• Main text

View BVdb publication page

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