NOTCH1 c.4723G>C ;(p.V1575L)

Variant ID: 9-139399420-C-G

NM_017617.3(NOTCH1):c.4723G>C;(p.V1575L)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Proteogenomic characterization of MiT family translocation renal cell carcinoma.

Nature Communications
Qu, Yuanyuan Y; Wu, Xiaohui X; Anwaier, Aihetaimujiang A; Feng, Jinwen J; Xu, Wenhao W; Pei, Xiaoru X; Zhu, Yu Y; Liu, Yang Y; Bai, Lin L; Yang, Guojian G; Tian, Xi X; Su, Jiaqi J; Shi, Guo-Hai GH; Cao, Da-Long DL; Xu, Fujiang F; Wang, Yue Y; Gan, Hua-Lei HL; Ni, Shujuan S; Sun, Meng-Hong MH; Zhao, Jian-Yuan JY; Zhang, Hailiang H; Ye, Dingwei D; Ding, Chen C
Publication Date: 2022-12-05

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 36470859
Variant Present in the following documents:
  • 41467_2022_34460_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Pan-cancer molecular tumor board experience with biomarker-driven precision immunotherapy.

Npj Precision Oncology
Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Okamura, Ryosuke R; Eskander, Ramez N RN; Botta, Gregory G; Patel, Hitendra H; Lee, Suzanna S; Lippman, Scott M SM; Sicklick, Jason K JK; Kurzrock, Razelle R
Publication Date: 2022-09-22

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 36138116
Variant Present in the following documents:
  • 41698_2022_309_MOESM1_ESM.pdf
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: N/A
PubMed Link: 35705558
Variant Present in the following documents:
View BVdb publication page



Durable Response of Dabrafenib, Trametinib, and Capmatinib in an NSCLC Patient With Co-Existing BRAF-KIAA1549 Fusion and MET Amplification: A Case Report.

Frontiers In Oncology
Chou, Yun-Tse YT; Lin, Chien-Chung CC; Lee, Chung-Ta CT; Pavlick, Dean C DC; Su, Po-Lan PL
Publication Date: 2022

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 35372088
Variant Present in the following documents:
  • Main text
  • fonc-12-838798.pdf
View BVdb publication page



Comparable genetic alteration profiles between gastric cancers with current and past Helicobacter pylori infection.

Scientific Reports
Tsuyuki, Sho S; Takeshima, Hideyuki H; Sekine, Shigeki S; Yamagata, Yukinori Y; Ando, Takayuki T; Yamashita, Satoshi S; Maeda, Shin S; Yoshikawa, Takaki T; Ushijima, Toshikazu T
Publication Date: 2021-12-06

Variant appearance in text: NOTCH1: 4723G>C; Val1575Leu
PubMed Link: 34873204
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2761.pdf
View BVdb publication page



Multicenter phase II trial (SWOG S1609, cohort 51) of ipilimumab and nivolumab in metastatic or unresectable angiosarcoma: a substudy of dual anti-CTLA-4 and anti-PD-1 blockade in rare tumors (DART).

Journal For Immunotherapy Of Cancer
Wagner, Michael J MJ; Othus, Megan M; Patel, Sandip P SP; Ryan, Chris C; Sangal, Ashish A; Powers, Benjamin B; Budd, G Thomas GT; Victor, Adrienne I AI; Hsueh, Chung-Tsen CT; Chugh, Rashmi R; Nair, Suresh S; Leu, Kirsten M KM; Agulnik, Mark M; Sharon, Elad E; Mayerson, Edward E; Plets, Melissa M; Blanke, Charles C; Streicher, Howard H; Chae, Young Kwang YK; Kurzrock, Razelle R
Publication Date: 2021-08

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 34380663
Variant Present in the following documents:
  • Main text
  • jitc-2021-002990.pdf
View BVdb publication page



Defining phenotypic and functional heterogeneity of glioblastoma stem cells by mass cytometry.

Jci Insight
Galdieri, Luciano L; Jash, Arijita A; Malkova, Olga O; Mao, Diane D DD; DeSouza, Patrick P; Chu, Yunli E YE; Salter, Amber A; Campian, Jian L JL; Naegle, Kristen M KM; Brennan, Cameron W CW; Wakimoto, Hiroaki H; Oh, Stephen T ST; Kim, Albert H AH; Chheda, Milan G MG
Publication Date: 2021-02-22

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 33400685
Variant Present in the following documents:
  • jciinsight-6-128456.pdf
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page



Unique Genomic Landscape of High-Grade Neuroendocrine Cervical Carcinoma: Implications for Rethinking Current Treatment Paradigms.

Jco Precision Oncology
Eskander, Ramez N RN; Elvin, Julia J; Gay, Laurie L; Ross, Jeffrey S JS; Miller, Vincent A VA; Kurzrock, Razelle R
Publication Date: 2020

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 33015532
Variant Present in the following documents:
  • PO.19.00248.pdf
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: NOTCH1: 4723G>C; V1575L
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: NOTCH1: Val1575Leu
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Multiregion Comprehensive Genomic Profiling of a Gastric Mixed Neuroendocrine-Nonneuroendocrine Neoplasm with Trilineage Differentiation.

Journal Of Gastric Cancer
Farooq, Faheem F; Zarrabi, Kevin K; Sweeney, Keith K; Kim, Joseph J; Bandovic, Jela J; Patel, Chiraag C; Choi, Minsig M
Publication Date: 2018-06

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 29984070
Variant Present in the following documents:
  • Main text
  • jgc-18-200.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: NOTCH1: V1575L
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page