RB1 c.2336T>A ;(p.L779*)

Variant ID: 13-49039351-T-A

NM_000321.2(RB1):c.2336T>A;(p.L779*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: RB1: L779*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

International Journal Of Molecular Sciences
Winn, Jennifer S JS; Hasse, Zachary Z; Slifker, Michael M; Pei, Jianming J; Arisi-Fernandez, Sebastian M SM; Talarchek, Jacqueline N JN; Obeid, Elias E; Baldwin, Donald A DA; Gong, Yulan Y; Ross, Eric E; Cristofanilli, Massimo M; Alpaugh, R Katherine RK; Fernandez, Sandra V SV
Publication Date: 2020-02-14

Variant appearance in text: RB1: 2336T>A; L779*
PubMed Link: 32075053
Variant Present in the following documents:
  • Main text
  • ijms-21-01290.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: RB1: 2336T>A; L779*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: RB1: L779*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: RB1: L779*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Mutational studies on single circulating tumor cells isolated from the blood of inflammatory breast cancer patients.

Breast Cancer Research And Treatment
Bingham, Catherine C; Fernandez, Sandra V SV; Fittipaldi, Patricia P; Dempsey, Paul W PW; Ruth, Karen J KJ; Cristofanilli, Massimo M; Katherine Alpaugh, R R
Publication Date: 2017-06

Variant appearance in text: RB1: L779*
PubMed Link: 28271309
Variant Present in the following documents:
  • 10549_2017_Article_4176.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: RB1: 2336T>A; L779*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: RB1: L779*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page