NOTCH1 c.1662C>A ;(p.C554*)

Variant ID: 9-139410440-G-T

NM_017617.3(NOTCH1):c.1662C>A;(p.C554*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic characterization of tobacco/nut chewing HPV-negative early stage tongue tumors identify MMP10 asa candidate to predict metastases.

Oral Oncology
Upadhyay, Pawan P; Gardi, Nilesh N; Desai, Sanket S; Chandrani, Pratik P; Joshi, Asim A; Dharavath, Bhaskar B; Arora, Priyanca P; Bal, Munita M; Nair, Sudhir S; Dutt, Amit A
Publication Date: 2017-10

Variant appearance in text: NOTCH1: C554*
PubMed Link: 28939077
Variant Present in the following documents:
  • mmc3.xlsx, sheet 5
View BVdb publication page



Notch pathway activation is essential for maintenance of stem-like cells in early tongue cancer.

Oncotarget
Upadhyay, Pawan P; Nair, Sudhir S; Kaur, Ekjot E; Aich, Jyotirmoi J; Dani, Prachi P; Sethunath, Vidyalakshmi V; Gardi, Nilesh N; Chandrani, Pratik P; Godbole, Mukul M; Sonawane, Kavita K; Prasad, Ratnam R; Kannan, Sadhana S; Agarwal, Beamon B; Kane, Shubhada S; Gupta, Sudeep S; Dutt, Shilpee S; Dutt, Amit A
Publication Date: 2016-08-02

Variant appearance in text: NOTCH1: C554*
PubMed Link: 27391340
Variant Present in the following documents:
  • oncotarget-07-50437-s001.pdf
View BVdb publication page



Cleaved NOTCH1 Expression Pattern in Head and Neck Squamous Cell Carcinoma Is Associated with NOTCH1 Mutation, HPV Status, and High-Risk Features.

Cancer Prevention Research (Philadelphia, Pa.)
Rettig, Eleni M EM; Chung, Christine H CH; Bishop, Justin A JA; Howard, Jason D JD; Sharma, Rajni R; Li, Ryan J RJ; Douville, Christopher C; Karchin, Rachel R; Izumchenko, Evgeny E; Sidransky, David D; Koch, Wayne W; Califano, Joseph J; Agrawal, Nishant N; Fakhry, Carole C
Publication Date: 2015-04

Variant appearance in text: NOTCH1: 1662C>A; C554X
PubMed Link: 25633867
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1.

Science (New York, N.Y.)
Agrawal, Nishant N; Frederick, Mitchell J MJ; Pickering, Curtis R CR; Bettegowda, Chetan C; Chang, Kyle K; Li, Ryan J RJ; Fakhry, Carole C; Xie, Tong-Xin TX; Zhang, Jiexin J; Wang, Jing J; Zhang, Nianxiang N; El-Naggar, Adel K AK; Jasser, Samar A SA; Weinstein, John N JN; TreviƱo, Lisa L; Drummond, Jennifer A JA; Muzny, Donna M DM; Wu, Yuanqing Y; Wood, Laura D LD; Hruban, Ralph H RH; Westra, William H WH; Koch, Wayne M WM; Califano, Joseph A JA; Gibbs, Richard A RA; Sidransky, David D; Vogelstein, Bert B; Velculescu, Victor E VE; Papadopoulos, Nickolas N; Wheeler, David A DA; Kinzler, Kenneth W KW; Myers, Jeffrey N JN
Publication Date: 2011-08-26

Variant appearance in text: NOTCH1: C554X
PubMed Link: 21798897
Variant Present in the following documents:
  • Main text
View BVdb publication page