NOTCH1 c.860G>A ;(p.W287*)

Variant ID: 9-139413900-C-T

NM_017617.3(NOTCH1):c.860G>A;(p.W287*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: NOTCH1: W287*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.

Theranostics
Verdugo-Sivianes, Eva M EM; Rojas, Ana M AM; Muñoz-Galván, Sandra S; Otero-Albiol, Daniel D; Carnero, Amancio A
Publication Date: 2021

Variant appearance in text: NOTCH1: W287*
PubMed Link: 33537097
Variant Present in the following documents:
  • thnov11p3452s1.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NOTCH1: W287*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Genomic landscape of advanced basal cell carcinoma: Implications for precision treatment with targeted and immune therapies.

Oncoimmunology
Goodman, Aaron M AM; Kato, Shumei S; Cohen, Philip R PR; Boichard, Amélie A; Frampton, Garrett G; Miller, Vincent V; Stephens, Philip J PJ; Daniels, Gregory A GA; Kurzrock, Razelle R
Publication Date: 2018

Variant appearance in text: NOTCH1: W287*
PubMed Link: 29399405
Variant Present in the following documents:
  • koni-07-03-1404217.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: W287*
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Rare Tumor Clinic: The University of California San Diego Moores Cancer Center Experience with a Precision Therapy Approach.

The Oncologist
Kato, Shumei S; Kurasaki, Kellie K; Ikeda, Sadakatsu S; Kurzrock, Razelle R
Publication Date: 2018-02

Variant appearance in text: NOTCH1: W287*
PubMed Link: 29038235
Variant Present in the following documents:
  • supp_the2017-0199_onco12285-sup-0001-suppinfo01.pdf
View BVdb publication page



Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapy.

Npj Genomic Medicine
Ikeda, Sadakatsu S; Goodman, Aaron M AM; Cohen, Philip R PR; Jensen, Taylor J TJ; Ellison, Christopher K CK; Frampton, Garrett G; Miller, Vincent V; Patel, Sandip P SP; Kurzrock, Razelle R
Publication Date: 2016

Variant appearance in text: NOTCH1: W287*
PubMed Link: 27942391
Variant Present in the following documents:
  • Main text
  • npjgenmed201637.pdf
View BVdb publication page