NF1 c.4558C>T ;(p.Q1520*)

Variant ID: 17-29587514-C-T

NM_001042492.2(NF1):c.4558C>T;(p.Q1520*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01

Variant appearance in text: NF1: 4558C>T; Gln1520Ter
PubMed Link: 36593066
Variant Present in the following documents:
  • jitc-2022-005937supp007.xls, sheet 1
View BVdb publication page



Improved Treatment Outcomes by Using Patient Specific Drug Combinations in Mammalian Target of Rapamycin Activated Advanced Metastatic Cancers.

Frontiers In Pharmacology
Crook, Timothy T; Patil, Darshana D; Gaya, Andrew A; Plowman, Nicholas N; Limaye, Sewanti S; Ranade, Anantbhushan A; Bhatt, Amit A; Page, Raymond R; Akolkar, Dadasaheb D
Publication Date: 2021

Variant appearance in text: NF1: Q1520*
PubMed Link: 33935721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: NF1: Q1520X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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: NF1: Q1520*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Morpho-Molecular Assessment Indicates New Prognostic Aspects and Personalized Therapeutic Options in Sinonasal Melanoma.

Cancers
Freiberger, Sandra N SN; Morand, Grégoire B GB; Turko, Patrick P; Wager, Ulrich U; Dummer, Reinhard R; Hüllner, Martin M; Holzmann, David D; Rupp, Niels J NJ; Levesque, Mitchell P MP
Publication Date: 2019-09-07

Variant appearance in text: NF1: Gln1520Ter
PubMed Link: 31500314
Variant Present in the following documents:
  • Main text
  • cancers-11-01329.pdf
View BVdb publication page