NF1 c.2087G>A ;(p.W696*)

Variant ID: 17-29553538-G-A

NM_001042492.2(NF1):c.2087G>A;(p.W696*)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Phase 1b trial of anti-EGFR antibody JMT101 and Osimertinib in EGFR exon 20 insertion-positive non-small-cell lung cancer.

Nature Communications
Zhao, Shen S; Zhuang, Wu W; Han, Baohui B; Song, Zhengbo Z; Guo, Wei W; Luo, Feng F; Wu, Lin L; Hu, Yi Y; Wang, Huijuan H; Dong, Xiaorong X; Jiang, Da D; Wang, Mingxia M; Miao, Liyun L; Wang, Qian Q; Zhang, Junping J; Fu, Zhenming Z; Huang, Yihua Y; Xu, Chunwei C; Hu, Longyu L; Li, Lei L; Hu, Rong R; Yang, Yang Y; Li, Mengke M; Yang, Xiugao X; Zhang, Li L; Huang, Yan Y; Fang, Wenfeng W
Publication Date: 2023-06-12

Variant appearance in text: NF1: 2087G>A; W696*
PubMed Link: 37308490
Variant Present in the following documents:
  • 41467_2023_39139_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology
Georgoulias, George G; Zaravinos, Apostolos A
Publication Date: 2022

Variant appearance in text: NF1: W696*
PubMed Link: 36389735
Variant Present in the following documents:
  • Table_7.xlsx, sheet 10
View BVdb publication page



Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.

Oncology Reports
Tak, Eunyoung E; Kim, Minhee M; Cho, Youngra Y; Choi, Sueun S; Kim, Jihun J; Han, Buhm B; Kim, Hyung-Don HD; Jang, Chloe Soo-Hyun CS; Kim, Jeong Eun JE; Hong, Yong Sang YS; Kim, Sun Young SY; Kim, Tae Won TW
Publication Date: 2022-01

Variant appearance in text: NF1: W696*
PubMed Link: 34779495
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Oncomine™ Comprehensive Assay v3 vs. Oncomine™ Comprehensive Assay Plus.

Cancers
Vestergaard, Lau K LK; Oliveira, Douglas N P DNP; Poulsen, Tim S TS; Høgdall, Claus K CK; Høgdall, Estrid V EV
Publication Date: 2021-10-18

Variant appearance in text: NF1: Trp696Ter
PubMed Link: 34680378
Variant Present in the following documents:
  • Main text
  • cancers-13-05230.pdf
View BVdb publication page



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: NF1: W696fs*1
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: NF1: 2087G>A
PubMed Link: 33916788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression.

Diagnostics (Basel, Switzerland)
Sun, Woo Young WY; Lee, Jina J; Kim, Bong Kyun BK; Kim, Jong Ok JO; Park, Joonhong J
Publication Date: 2021-03-01

Variant appearance in text: NF1: 2087G>A; Trp696*
PubMed Link: 33804295
Variant Present in the following documents:
  • diagnostics-11-00416-s001.pdf
View BVdb publication page



Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One
Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R
Publication Date: 2021

Variant appearance in text: NF1: W696*
PubMed Link: 33556149
Variant Present in the following documents:
  • pone.0246048.s008.xlsx, sheet 1
View BVdb publication page



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: NF1: 2087G>A; W696*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Integrated genetic and epigenetic analysis of cancer-related genes in non-ampullary duodenal adenomas and intramucosal adenocarcinomas.

The Journal Of Pathology
Ota, Ryosuke R; Sawada, Takeshi T; Tsuyama, Sho S; Sasaki, Yasushi Y; Suzuki, Hiromu H; Kaizaki, Yasuharu Y; Hasatani, Kenkei K; Yamamoto, Eiichiro E; Nakanishi, Hiroyoshi H; Inagaki, Satoko S; Tsuji, Shigetsugu S; Yoshida, Naohiro N; Doyama, Hisashi H; Minato, Hiroshi H; Nakamura, Keishi K; Kasashima, Satomi S; Kubota, Eiji E; Kataoka, Hiromi H; Tokino, Takashi T; Yao, Takashi T; Minamoto, Toshinari T
Publication Date: 2020-11

Variant appearance in text: NF1: Trp696Ter
PubMed Link: 32770675
Variant Present in the following documents:
  • PATH-252-330-s002.xlsx, sheet 8
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: NF1: 2087G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Fusions involving BCOR and CREBBP are rare events in infiltrating glioma.

Acta Neuropathologica Communications
Pisapia, David J DJ; Ohara, Kentaro K; Bareja, Rohan R; Wilkes, David C DC; Hissong, Erika E; Croyle, Jaclyn A JA; Kim, Joon-Hyung JH; Saab, Jad J; MacDonald, Theresa Y TY; Beg, Shaham S; O'Reilly, Catherine C; Kudman, Sarah S; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Greenfield, Jeffrey J; Mosquera, Juan Miguel JM
Publication Date: 2020-06-03

Variant appearance in text: NF1: Trp696Ter
PubMed Link: 32493417
Variant Present in the following documents:
  • Main text
  • 40478_2020_Article_951.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NF1: W696*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



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: NF1: 2087G>A; W696*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent genetic alterations and biomarker expression in primary and metastatic squamous cell carcinomas of the vulva.

Human Pathology
Xing, Deyin D; Liu, Yuehua Y; Park, Hyeon Jin HJ; Baek, Inji I; Tran, Hung H; Cheang, Gloria G; Novo, Jorge J; Dillon, Jessica J; Matoso, Andres A; Farmer, Emily E; Cheng, Max A MA; Tsai, Ya-Chea YC; Lombardo, Kara K; Conner, Michael G MG; Vang, Russell R; Hung, Chien-Fu CF; Wu, Tzyy-Choou TC; Song, Wei W
Publication Date: 2019-10

Variant appearance in text: NF1: Trp696Ter
PubMed Link: 31437519
Variant Present in the following documents:
  • Main text
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: NF1: W696*
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: Trp696Ter
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: NF1: 2087G>A; W696*
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates.

Nature Communications
Chitsazzadeh, Vida V; Coarfa, Cristian C; Drummond, Jennifer A JA; Nguyen, Tri T; Joseph, Aaron A; Chilukuri, Suneel S; Charpiot, Elizabeth E; Adelmann, Charles H CH; Ching, Grace G; Nguyen, Tran N TN; Nicholas, Courtney C; Thomas, Valencia D VD; Migden, Michael M; MacFarlane, Deborah D; Thompson, Erika E; Shen, Jianjun J; Takata, Yoko Y; McNiece, Kayla K; Polansky, Maxim A MA; Abbas, Hussein A HA; Rajapakshe, Kimal K; Gower, Adam A; Spira, Avrum A; Covington, Kyle R KR; Xiao, Weimin W; Gunaratne, Preethi P; Pickering, Curtis C; Frederick, Mitchell M; Myers, Jeffrey N JN; Shen, Li L; Yao, Hui H; Su, Xiaoping X; Rapini, Ronald P RP; Wheeler, David A DA; Hawk, Ernest T ET; Flores, Elsa R ER; Tsai, Kenneth Y KY
Publication Date: 2016-08-30

Variant appearance in text: NF1: W696X
PubMed Link: 27574101
Variant Present in the following documents:
  • ncomms12601-s2.xlsx, sheet 1
View BVdb publication page



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: NF1: 2087G>A; W696*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: NF1: 2087G>A; W696*
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page



The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Genetic Testing And Molecular Biomarkers
Maruoka, Ryo R; Takenouchi, Toshiki T; Torii, Chiharu C; Shimizu, Atsushi A; Misu, Kumiko K; Higasa, Koichiro K; Matsuda, Fumihiko F; Ota, Arihito A; Tanito, Katsumi K; Kuramochi, Akira A; Arima, Yoshimi Y; Otsuka, Fujio F; Yoshida, Yuichi Y; Moriyama, Keiji K; Niimura, Michihito M; Saya, Hideyuki H; Kosaki, Kenjiro K
Publication Date: 2014-11

Variant appearance in text: NF1: 2087G>A
PubMed Link: 25325900
Variant Present in the following documents:
  • Main text
View BVdb publication page