NOTCH1 c.5932C>T ;(p.Q1978*)

Variant ID: 9-139395006-G-A

NM_017617.3(NOTCH1):c.5932C>T;(p.Q1978*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A clinically annotated post-mortem approach to study multi-organ somatic mutational clonality in normal tissues.

Scientific Reports
Luijts, Tom T; Elliott, Kerryn K; Siaw, Joachim Tetteh JT; Van de Velde, Joris J; Beyls, Elien E; Claeys, Arne A; Lammens, Tim T; Larsson, Erik E; Willaert, Wouter W; Vral, Anne A; Van den Eynden, Jimmy J
Publication Date: 2022-06-20

Variant appearance in text: NOTCH1: Q1978X
PubMed Link: 35725896
Variant Present in the following documents:
  • 41598_2022_14240_MOESM2_ESM.xls, sheet 2
View BVdb publication page



Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.

Genome Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R
Publication Date: 2021-10-04

Variant appearance in text: NOTCH1: Q1978*
PubMed Link: 34607609
Variant Present in the following documents:
  • 13073_2021_969_MOESM1_ESM.xlsx, sheet 2
  • 13073_2021_969_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma.

Frontiers In Oncology
Cao, Jian J; Yang, Chun-He CH; Han, Wei-Qing WQ; Xie, Yu Y; Liu, Zhi-Zhong ZZ; Jiang, Shu-Suan SS
Publication Date: 2021

Variant appearance in text: NOTCH1: 5932C>T; Q1978X
PubMed Link: 34150614
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: NOTCH1: Q1978X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Patterns of Response to Immune Checkpoint Inhibitors in Association with Genomic and Clinical Features in Patients with Head and Neck Squamous Cell Carcinoma (HNSCC).

Cancers
Economopoulou, Panagiota P; Anastasiou, Maria M; Papaxoinis, George G; Spathas, Nikolaos N; Spathis, Aris A; Oikonomopoulos, Nikolaos N; Kotsantis, Ioannis I; Tsavaris, Onoufrios O; Gkotzamanidou, Maria M; Gavrielatou, Niki N; Vagia, Elena E; Kyrodimos, Efthymios E; Gagari, Eleni E; Giotakis, Evangelos E; Delides, Alexander A; Psyrri, Amanda A
Publication Date: 2021-01-14

Variant appearance in text: NOTCH1: Q1978*
PubMed Link: 33466719
Variant Present in the following documents:
  • Main text
  • cancers-13-00286.pdf
View BVdb publication page



Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Journal For Immunotherapy Of Cancer
Mazzotta, Marco M; Filetti, Marco M; Occhipinti, Mario M; Marinelli, Daniele D; Scalera, Stefano S; Terrenato, Irene I; Sperati, Francesca F; Pallocca, Matteo M; Rizzo, Francesco F; Gelibter, Alain A; Botticelli, Andrea A; Scafetta, Giorgia G; Di Napoli, Arianna A; Krasniqi, Eriseld E; Pizzuti, Laura L; Barba, Maddalena M; Carpano, Silvia S; Vici, Patrizia P; Fanciulli, Maurizio M; De Nicola, Francesca F; Ciuffreda, Ludovica L; Goeman, Frauke F; De Maria, Ruggero R; Vecchione, Andrea A; Giusti, Raffaele R; Ciliberto, Gennaro G; Marchetti, Paolo P; Maugeri-Saccà, Marcello M
Publication Date: 2020-08

Variant appearance in text: NOTCH1: Q1978*
PubMed Link: 32759236
Variant Present in the following documents:
  • jitc-2020-000946supp002.xlsx, sheet 1
View BVdb publication page