FAT1 c.5006C>G ;(p.S1669*)

Variant ID: 4-187542734-G-C

NM_005245.3(FAT1):c.5006C>G;(p.S1669*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell
Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J
Publication Date: 2023-04-24

Variant appearance in text: FAT1: S1669X
PubMed Link: 37116492
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Pembrolizumab as a promising intervention for advanced penile cancer.

International Braz J Urol : Official Journal Of The Brazilian Society Of Urology
Vinueza-Obando, Daniela D; Spiess, Philippe E PE; García-Perdomo, Herney Andrés HA
Publication Date: 2022

Variant appearance in text: FAT1: S1669*
PubMed Link: 35373954
Variant Present in the following documents:
  • Main text
  • 1677-6119-ibju-48-04-0719.pdf
View BVdb publication page



Case Report: Two Cases of Chemotherapy Refractory Metastatic Penile Squamous Cell Carcinoma With Extreme Durable Response to Pembrolizumab.

Frontiers In Oncology
Chahoud, Jad J; Skelton, William Paul WP; Spiess, Philippe E PE; Walko, Christine C; Dhillon, Jasreman J; Gage, Kenneth L KL; Johnstone, Peter A S PAS; Jain, Rohit K RK
Publication Date: 2020

Variant appearance in text: FAT1: S1669*
PubMed Link: 33425770
Variant Present in the following documents:
  • Main text
  • fonc-10-615298.pdf
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: S1669*
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: S1669*
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: 5006C>G; S1669*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page