FAT1 c.5383C>T ;(p.R1795*)

Variant ID: 4-187542357-G-A

NM_005245.3(FAT1):c.5383C>T;(p.R1795*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: FAT1: R1795X
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Disease Modeling on Tumor Organoids Implicates AURKA as a Therapeutic Target in Liver Metastatic Colorectal Cancer.

Cellular And Molecular Gastroenterology And Hepatology
Boos, Sophie L SL; Loevenich, Leon P LP; Vosberg, Sebastian S; Engleitner, Thomas T; Öllinger, Rupert R; Kumbrink, Jörg J; Rokavec, Matjaz M; Michl, Marlies M; Greif, Philipp A PA; Jung, Andreas A; Hermeking, Heiko H; Neumann, Jens J; Kirchner, Thomas T; Rad, Roland R; Jung, Peter P
Publication Date: 2022

Variant appearance in text: FAT1: 5383C>T; Arg1795Ter
PubMed Link: 34700030
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Disease Modeling on Tumor Organoids Implicates AURKA as a Therapeutic Target in Liver Metastatic Colorectal Cancer.

Cellular And Molecular Gastroenterology And Hepatology
Boos, Sophie L SL; Loevenich, Leon P LP; Vosberg, Sebastian S; Engleitner, Thomas T; Öllinger, Rupert R; Kumbrink, Jörg J; Rokavec, Matjaz M; Michl, Marlies M; Greif, Philipp A PA; Jung, Andreas A; Hermeking, Heiko H; Neumann, Jens J; Kirchner, Thomas T; Rad, Roland R; Jung, Peter P
Publication Date: 2021-10-23

Variant appearance in text: FAT1: 5383C>T; Arg1795Ter
PubMed Link: 34700030
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: FAT1: R1795*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Publication Date: 2020-07-31

Variant appearance in text: FAT1: 5383C>T; R1795*
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 3
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: FAT1: R1795*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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: FAT1: R1795*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: FAT1: 5383C>T; R1795*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups.

Nature Communications
,
Publication Date: 2013

Variant appearance in text: FAT1: 5383C>T; R1795*
PubMed Link: 24292195
Variant Present in the following documents:
  • ncomms3873-s2.xls, sheet 1
View BVdb publication page