NOTCH1 c.4724T>C ;(p.V1575A)

Variant ID: 9-139399419-A-G

NM_017617.3(NOTCH1):c.4724T>C;(p.V1575A)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Metastatic clear-cell renal cell carcinoma: a frequent NOTCH1 mutation predictive of response to anti-NOTCH1 CB-103 treatment.

Experimental Hematology & Oncology
Bui, Thi Oanh TO; Angeli, Eurydice E; El Bouchtaoui, Morad M; Gapihan, Guillaume G; Dao, Van Tu VT; Paris, Justine J; Leboeuf, Christophe C; Soussan, Michael M; Villarese, Patrick P; Ziol, Marianne M; Van Glabeke, Emmanuel E; Le, Thi Huong TH; Feugeas, Jean-Paul JP; Janin, Anne A; Bousquet, Guilhem G
Publication Date: 2023-05-15

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 37189165
Variant Present in the following documents:
  • 40164_2023_408_MOESM1_ESM.pdf
View BVdb publication page



Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions.

Journal Of Clinical And Experimental Dentistry
Baus-Domínguez, Maria M; Gómez-Díaz, Raquel R; Martín-Lozano, Guiomar G; Iglesias-Martín, Fernando F; Gutiérrez-Pérez, José-Luis JL; Torres-Lagares, Daniel D; Serrera-Figallo, María-Ángeles MÁ; Gutiérrez-Corrales, Aida A
Publication Date: 2023-03

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 37008245
Variant Present in the following documents:
  • jced-15-e177.pdf
View BVdb publication page



An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology
Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH
Publication Date: 2018-07-31

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology
Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M
Publication Date: 2018-06-01

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology
Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH
Publication Date: 2018-02

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
View BVdb publication page



Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
View BVdb publication page



Clinical Grade "SNaPshot" Genetic Mutation Profiling in Multiple Myeloma.

Ebiomedicine
O'Donnell, Elizabeth E; Mahindra, Anuj A; Yee, Andrew J AJ; Nardi, Valentina V; Birrer, Nicole N; Horick, Nora N; Borger, Darrell D; Finkelstein, Dianne D; Iafrate, John A JA; Raje, Noopur N
Publication Date: 2015-01

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 26137536
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Publication Date: 2014

Variant appearance in text: NOTCH1: 4724T>C
PubMed Link: 25372287
Variant Present in the following documents:
  • pone.0111693.s003.xls, sheet 1
View BVdb publication page