NF2 c.1396C>T ;(p.R466*)

Variant ID: 22-30070880-C-T

NM_000268.3(NF2):c.1396C>T;(p.R466*)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: NF2: 1396C>T; Arg466Ter; rs74315504
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



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: NF2: 1396C>T; R466*
PubMed Link: 36681680
Variant Present in the following documents:
  • 41467_2023_35833_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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: NF2: 1396C>T; R466*
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: 1396C>T
PubMed Link: 35681071
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_13580.pdf
  • 41598_2022_13580_MOESM1_ESM.pdf
View BVdb publication page



Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: NF2: 1396C>T; R466*
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



Re-evaluation of missense variant classifications in NF2.

Human Mutation
Sadler, Katherine V KV; Rowlands, Charlie F CF; Smith, Philip T PT; Hartley, Claire L CL; Bowers, Naomi L NL; Roberts, Nicola Y NY; Harris, Jade L JL; Wallace, Andrew J AJ; Evans, D Gareth DG; Messiaen, Ludwine M LM; Smith, Miriam J MJ
Publication Date: 2022-05

Variant appearance in text: rs74315504
PubMed Link: 35332608
Variant Present in the following documents:
  • HUMU-43-643-s001.xlsx, sheet 1
View BVdb publication page



Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports
Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ
Publication Date: 2021-11-16

Variant appearance in text: NF2: 1396C>T; Arg466*
PubMed Link: 34788622
Variant Present in the following documents:
  • NIHMS1757901-supplement-2.xlsx, sheet 3
View BVdb publication page



Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27

Variant appearance in text: NF2: 1396C>T; Arg466X; rs74315504
PubMed Link: 34580349
Variant Present in the following documents:
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



The Prognostic Value of Methylation Signatures and NF2 Mutations in Atypical Meningiomas.

Cancers
Meta, Rahmina R; Boldt, Henning B HB; Kristensen, Bjarne W BW; Sahm, Felix F; Sjursen, Wenche W; Torp, Sverre H SH
Publication Date: 2021-03-12

Variant appearance in text: NF2: 1396C>T; Arg466Ter
PubMed Link: 33809258
Variant Present in the following documents:
  • Main text
  • cancers-13-01262.pdf
View BVdb publication page



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: NF2: 1396C>T; R466*
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: 1396C>T; R466*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: NF2: 1396C>T; R466*
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: NF2: 1396C>T; Arg466Ter
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Genes
Giugliano, Teresa T; Santoro, Claudia C; Torella, Annalaura A; Del Vecchio Blanco, Francesca F; Grandone, Anna A; Onore, Maria Elena ME; Melone, Mariarosa Anna Beatrice MAB; Straccia, Giulia G; Melis, Daniela D; Piccolo, Vincenzo V; Limongelli, Giuseppe G; Buono, Salvatore S; Perrotta, Silverio S; Nigro, Vincenzo V; Piluso, Giulio G
Publication Date: 2019-07-31

Variant appearance in text: NF2: Arg466*
PubMed Link: 31370276
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
Publication Date: 2019-05

Variant appearance in text: NF2: R466*
PubMed Link: 31011206
Variant Present in the following documents:
  • NIHMS1522524-supplement-Sup_Tables_1_-_2.xlsx, sheet 2
View BVdb publication page



Regulation of human glioma cell migration, tumor growth, and stemness gene expression using a Lck targeted inhibitor.

Oncogene
Zepecki, J P JP; Snyder, K M KM; Moreno, M M MM; Fajardo, E E; Fiser, A A; Ness, J J; Sarkar, A A; Toms, S A SA; Tapinos, N N
Publication Date: 2019-03

Variant appearance in text: NF2: 1396C>T; R466*
PubMed Link: 30353164
Variant Present in the following documents:
  • 41388_2018_546_MOESM4_ESM.pdf
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: NF2: 1396C>T; R466*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



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: R466*
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



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: 1396C>T
PubMed Link: 26066488
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.

Plos One
Sheffield, Brandon S BS; Tinker, Anna V AV; Shen, Yaoqing Y; Hwang, Harry H; Li-Chang, Hector H HH; Pleasance, Erin E; Ch'ng, Carolyn C; Lum, Amy A; Lorette, Julie J; McConnell, Yarrow J YJ; Sun, Sophie S; Jones, Steven J M SJ; Gown, Allen M AM; Huntsman, David G DG; Schaeffer, David F DF; Churg, Andrew A; Yip, Stephen S; Laskin, Janessa J; Marra, Marco A MA
Publication Date: 2015

Variant appearance in text: NF2: R466*
PubMed Link: 25798586
Variant Present in the following documents:
  • Main text
  • pone.0119689.pdf
View BVdb publication page



In vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila.

Plos One
Gavilan, Heather S HS; Kulikauskas, Rima M RM; Gutmann, David H DH; Fehon, Richard G RG
Publication Date: 2014

Variant appearance in text: NF2: R466X
PubMed Link: 24595234
Variant Present in the following documents:
  • Main text
View BVdb publication page