NOTCH1 c.1379C>T ;(p.P460L)

Variant ID: 9-139412266-G-A

NM_017617.3(NOTCH1):c.1379C>T;(p.P460L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.

Cancer Causes & Control : Ccc
Hercules, Shawn M SM; Liu, Xiyu X; Bassey-Archibong, Blessing B I BBI; Skeete, Desiree H A DHA; Smith Connell, Suzanne S; Daramola, Adetola A; Banjo, Adekunbiola A AA; Ebughe, Godwin G; Agan, Thomas T; Ekanem, Ima-Obong IO; Udosen, Joe J; Obiorah, Christopher C; Ojule, Aaron C AC; Misauno, Michael A MA; Dauda, Ayuba M AM; Egbujo, Ejike C EC; Hercules, Jevon C JC; Ansari, Amna A; Brain, Ian I; MacColl, Christine C; Xu, Yili Y; Jin, Yuxin Y; Chang, Sharon S; Carpten, John D JD; Bédard, André A; Pond, Greg R GR; Blenman, Kim R M KRM; Manojlovic, Zarko Z; Daniel, Juliet M JM
Publication Date: 2022-06

Variant appearance in text: NOTCH1: 1379C>T; Pro460Leu; rs776258761
PubMed Link: 35384527
Variant Present in the following documents:
  • 10552_2022_1574_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: NOTCH1: P460L
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.

Science Advances
Wei, Lei L; Christensen, Sean R SR; Fitzgerald, Megan E ME; Graham, James J; Hutson, Nicholas D ND; Zhang, Chi C; Huang, Ziyun Z; Hu, Qiang Q; Zhan, Fenglin F; Xie, Jun J; Zhang, Jianmin J; Liu, Song S; Remenyik, Eva E; Gellen, Emese E; Colegio, Oscar R OR; Bax, Michael M; Xu, Jinhui J; Lin, Haifan H; Huss, Wendy J WJ; Foster, Barbara A BA; Paragh, Gyorgy G
Publication Date: 2021-01

Variant appearance in text: NOTCH1: P460L
PubMed Link: 33523857
Variant Present in the following documents:
  • Main text
  • abd7703.pdf
View BVdb publication page



Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.

Science Advances
Wei, Lei L; Christensen, Sean R SR; Fitzgerald, Megan E ME; Graham, James J; Hutson, Nicholas D ND; Zhang, Chi C; Huang, Ziyun Z; Hu, Qiang Q; Zhan, Fenglin F; Xie, Jun J; Zhang, Jianmin J; Liu, Song S; Remenyik, Eva E; Gellen, Emese E; Colegio, Oscar R OR; Bax, Michael M; Xu, Jinhui J; Lin, Haifan H; Huss, Wendy J WJ; Foster, Barbara A BA; Paragh, Gyorgy G
Publication Date: 2021-01

Variant appearance in text: NOTCH1: P460L
PubMed Link: 33523857
Variant Present in the following documents:
  • Main text
  • abd7703.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: P460L
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: NOTCH1: 1379C>T; P460L
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Nature Communications
Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ
Publication Date: 2016-08-25

Variant appearance in text: NOTCH1: P460L
PubMed Link: 27558455
Variant Present in the following documents:
  • ncomms12493-s14.xlsx, sheet 1
View BVdb publication page



Does Notch play a tumor suppressor role across diverse squamous cell carcinomas?

Cancer Medicine
Zhang, Min M; Biswas, Sangita S; Qin, Xin X; Gong, Wenrong W; Deng, Wenbing W; Yu, Hongjun H
Publication Date: 2016-08

Variant appearance in text: NOTCH1: P460L
PubMed Link: 27228302
Variant Present in the following documents:
  • Main text
  • CAM4-5-2048.pdf
View BVdb publication page