NF1 c.1105C>T ;(p.Q369*)

Variant ID: 17-29528097-C-T

NM_001042492.2(NF1):c.1105C>T;(p.Q369*)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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: NF1: Q369X
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



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: NF1: Q369X
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14

Variant appearance in text: NF1: Gln369Ter
PubMed Link: 34521849
Variant Present in the following documents:
  • 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
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: NF1: 1105C>T; Q369*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Journal Of Biomedical Science
Wu-Chou, Yah-Huei YH; Hung, Tzu-Chao TC; Lin, Yin-Ting YT; Cheng, Hsing-Wen HW; Lin, Ju-Li JL; Lin, Chih-Hung CH; Yu, Chung-Chih CC; Chen, Kuo-Ting KT; Yeh, Tu-Hsueh TH; Chen, Yu-Ray YR
Publication Date: 2018-10-05

Variant appearance in text: NF1: 1105C>T; Gln369Ter
PubMed Link: 30290804
Variant Present in the following documents:
  • Main text
  • 12929_2018_Article_474.pdf
View BVdb publication page



Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Leukemia
Bolli, Niccolo N; Biancon, Giulia G; Moarii, Matahi M; Gimondi, Silvia S; Li, Yilong Y; de Philippis, Chiara C; Maura, Francesco F; Sathiaseelan, Vijitha V; Tai, Yu-Tzu YT; Mudie, Laura L; O'Meara, Sarah S; Raine, Keiran K; Teague, Jon W JW; Butler, Adam P AP; Carniti, Cristiana C; Gerstung, Moritz M; Bagratuni, Tina T; Kastritis, Efstathios E; Dimopoulos, Meletios M; Corradini, Paolo P; Anderson, Kenneth C KC; Moreau, Philippe P; Minvielle, Stephane S; Campbell, Peter J PJ; Papaemmanuil, Elli E; Avet-Loiseau, Herve H; Munshi, Nikhil C NC
Publication Date: 2018-12

Variant appearance in text: NF1: Q369*
PubMed Link: 29789651
Variant Present in the following documents:
  • 41375_2018_37_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



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: NF1: 1105C>T; Q369*
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Hypoxia-regulated gene expression explains differences between melanoma cell line-derived xenografts and patient-derived xenografts.

Oncotarget
Bhadury, Joydeep J; Einarsdottir, Berglind O BO; Podraza, Agnieszka A; Bagge, Roger Olofsson RO; Stierner, Ulrika U; Ny, Lars L; Dávila López, Marcela M; Nilsson, Jonas A JA
Publication Date: 2016-04-26

Variant appearance in text: NF1: Q369X
PubMed Link: 27009863
Variant Present in the following documents:
  • oncotarget-07-23801-s002.xlsx, sheet 1
View BVdb publication page



NF1 Mutations Are Common in Desmoplastic Melanoma.

The American Journal Of Surgical Pathology
Wiesner, Thomas T; Kiuru, Maija M; Scott, Sasinya N SN; Arcila, Maria M; Halpern, Allan C AC; Hollmann, Travis T; Berger, Michael F MF; Busam, Klaus J KJ
Publication Date: 2015-10

Variant appearance in text: NF1: 1105C>T; Q369*
PubMed Link: 26076063
Variant Present in the following documents:
  • Main text
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: 1105C>T
PubMed Link: 25325900
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: Gln369X
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page



Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.

Nature Genetics
Barretina, Jordi J; Taylor, Barry S BS; Banerji, Shantanu S; Ramos, Alexis H AH; Lagos-Quintana, Mariana M; Decarolis, Penelope L PL; Shah, Kinjal K; Socci, Nicholas D ND; Weir, Barbara A BA; Ho, Alan A; Chiang, Derek Y DY; Reva, Boris B; Mermel, Craig H CH; Getz, Gad G; Antipin, Yevgenyi Y; Beroukhim, Rameen R; Major, John E JE; Hatton, Charles C; Nicoletti, Richard R; Hanna, Megan M; Sharpe, Ted T; Fennell, Tim J TJ; Cibulskis, Kristian K; Onofrio, Robert C RC; Saito, Tsuyoshi T; Shukla, Neerav N; Lau, Christopher C; Nelander, Sven S; Silver, Serena J SJ; Sougnez, Carrie C; Viale, Agnes A; Winckler, Wendy W; Maki, Robert G RG; Garraway, Levi A LA; Lash, Alex A; Greulich, Heidi H; Root, David E DE; Sellers, William R WR; Schwartz, Gary K GK; Antonescu, Cristina R CR; Lander, Eric S ES; Varmus, Harold E HE; Ladanyi, Marc M; Sander, Chris C; Meyerson, Matthew M; Singer, Samuel S
Publication Date: 2010-08

Variant appearance in text: NF1: Q369*
PubMed Link: 20601955
Variant Present in the following documents:
  • Main text
  • nihms212743.pdf
  • NIHMS212743-supplement-4.xlsx, sheet 1
View BVdb publication page