NOTCH1 c.7216C>T ;(p.Q2406*)

Variant ID: 9-139390975-G-A

NM_017617.3(NOTCH1):c.7216C>T;(p.Q2406*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Characterization of clonal immunoglobulin heavy V-D-J gene rearrangements in Chinese patients with chronic lymphocytic leukemia: Clinical features and molecular profiles.

Frontiers In Oncology
Deng, Xinyue X; Zhang, Meilan M; Wang, Jiachen J; Zhou, Xiaoxi X; Xiao, Min M
Publication Date: 2023

Variant appearance in text: NOTCH1: Q2406*
PubMed Link: 36874132
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Frontiers In Oncology
Guan, Tao T; Zhang, Min M; Liu, Xiaolan X; Li, Jing J; Xin, Beibei B; Ren, Yanxin Y; Yang, Yuchao Y; Wang, Hui H; Zhao, Mengjing M; Huang, Yunpeng Y; Guo, Xiaojing X; Du, Jun J; Qian, Wenbin W; Su, Liping L
Publication Date: 2022

Variant appearance in text: NOTCH1: Q2406X
PubMed Link: 36465410
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 4
View BVdb publication page



Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science
Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K
Publication Date: 2022-08

Variant appearance in text: NOTCH1: Q2406X
PubMed Link: 35579198
Variant Present in the following documents:
  • CAS-113-2763-s003.xlsx, sheet 10
View BVdb publication page



Clinical Features and Prognostic Significance of NOTCH1 Mutations in Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology
Li, Zhongqi Z; Yu, Fang F; Ye, Wenle W; Mao, Liping L; Huang, Jiansong J; Shao, Yang Y; Yan, Junrong J; Yu, Wenjuan W; Jin, Jie J; Wang, Jinghan J
Publication Date: 2021

Variant appearance in text: NOTCH1: 7216C>T; Q2406*
PubMed Link: 34956871
Variant Present in the following documents:
  • Main text
  • fonc-11-746577.pdf
  • DataSheet_2.xlsx, sheet 1
  • DataSheet_1.pdf
View BVdb publication page



Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Blood Advances
Tran, Thai Hoa TH; Langlois, Sylvie S; Meloche, Caroline C; Caron, Maxime M; Saint-Onge, Pascal P; Rouette, Alexandre A; Bataille, Alain R AR; Jimenez-Cortes, Camille C; Sontag, Thomas T; Bittencourt, Henrique H; Laverdière, Caroline C; Lavallée, Vincent-Philippe VP; Leclerc, Jean-Marie JM; Cole, Peter D PD; Gennarini, Lisa M LM; Kahn, Justine M JM; Kelly, Kara M KM; Michon, Bruno B; Santiago, Raoul R; Stevenson, Kristen E KE; Welch, Jennifer J G JJG; Schroeder, Kaitlin M KM; Koch, Victoria V; Cellot, Sonia S; Silverman, Lewis B LB; Sinnett, Daniel D
Publication Date: 2022-02-22

Variant appearance in text: NOTCH1: Q2406X
PubMed Link: 34933343
Variant Present in the following documents:
  • advancesADV2021005634-suppl1.xlsx, sheet 1
  • advancesADV2021005634-suppl1.xlsx, sheet 3
View BVdb publication page



Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Scientific Reports
Chang, Ya-Hsuan YH; Yu, Chih-Hsiang CH; Jou, Shiann-Tarng ST; Lin, Chien-Yu CY; Lin, Kai-Hsin KH; Lu, Meng-Yao MY; Wu, Kang-Hsi KH; Chang, Hsiu-Hao HH; Lin, Dong-Tsamn DT; Lin, Shu-Wha SW; Chen, Hsuan-Yu HY; Yang, Yung-Li YL
Publication Date: 2021-01-12

Variant appearance in text: NOTCH1: Q2406X
PubMed Link: 33436855
Variant Present in the following documents:
  • 41598_2020_80613_MOESM1_ESM.pdf
View BVdb publication page



NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Cancer Science
Kimura, Shunsuke S; Seki, Masafumi M; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Akiyama, Masaharu M; Koh, Katsuyoshi K; Imamura, Toshihiko T; Manabe, Atsushi A; Hayashi, Yasuhide Y; Kobayashi, Masao M; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J
Publication Date: 2019-02

Variant appearance in text: NOTCH1: Q2406X
PubMed Link: 30387229
Variant Present in the following documents:
  • CAS-110-784-s012.xlsx, sheet 1
View BVdb publication page



NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Frontiers In Oncology
Rosati, Emanuela E; Baldoni, Stefano S; De Falco, Filomena F; Del Papa, Beatrice B; Dorillo, Erica E; Rompietti, Chiara C; Albi, Elisa E; Falzetti, Franca F; Di Ianni, Mauro M; Sportoletti, Paolo P
Publication Date: 2018

Variant appearance in text: NOTCH1: Q2406*
PubMed Link: 29998084
Variant Present in the following documents:
  • Main text
  • fonc-08-00229.pdf
View BVdb publication page



Clinical impact of miR-223 expression in pediatric T-Cell lymphoblastic lymphoma.

Oncotarget
Pomari, Elena E; Lovisa, Federica F; Carraro, Elisa E; Primerano, Simona S; D'Amore, Emanuele S G ESG; Bonvini, Paolo P; Nigro, Luca Lo LL; Vito, Rita De R; Vinti, Luciana L; Farruggia, Piero P; Pillon, Marta M; Basso, Giuseppe G; Basso, Katia K; Mussolin, Lara L
Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: 7216C>T; Q2406*
PubMed Link: 29296210
Variant Present in the following documents:
View BVdb publication page



Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Leukemia
Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: NOTCH1: Q2406*
PubMed Link: 28924241
Variant Present in the following documents:
  • leu2017291x4.xlsx, sheet 1
View BVdb publication page