FAT1 c.6012T>G ;(p.I2004M)

Variant ID: 4-187541728-A-C

NM_005245.3(FAT1):c.6012T>G;(p.I2004M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer
Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM
Publication Date: 2021-11

Variant appearance in text: FAT1: 6012T>G; Ile2004Met
PubMed Link: 34870237
Variant Present in the following documents:
  • EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9
View BVdb publication page



Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine
Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M
Publication Date: 2018-04-09

Variant appearance in text: FAT1: I2004M
PubMed Link: 29642553
Variant Present in the following documents:
  • Main text
  • jpm-08-00013.pdf
View BVdb publication page



A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.

Oncotarget
Pishvaian, Michael J MJ; Joseph Bender, R R; Matrisian, Lynn M LM; Rahib, Lola L; Hendifar, Andrew A; Hoos, William A WA; Mikhail, Sam S; Chung, Vincent V; Picozzi, Vincent V; Heartwell, Craig C; Mason, Kimberly K; Varieur, Katelyn K; Aberra, Metasebia M; Madhavan, Subha S; Petricoin, Emanuel E; Brody, Jonathan R JR
Publication Date: 2017-10-13

Variant appearance in text: FAT1: I2004M
PubMed Link: 29137355
Variant Present in the following documents:
  • oncotarget-08-83446-s002.xlsx, sheet 2
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: FAT1: I2004M
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.

Nature Genetics
Morris, Luc G T LG; Kaufman, Andrew M AM; Gong, Yongxing Y; Ramaswami, Deepa D; Walsh, Logan A LA; Turcan, Şevin Ş; Eng, Stephanie S; Kannan, Kasthuri K; Zou, Yilong Y; Peng, Luke L; Banuchi, Victoria E VE; Paty, Phillip P; Zeng, Zhaoshi Z; Vakiani, Efsevia E; Solit, David D; Singh, Bhuvanesh B; Ganly, Ian I; Liau, Linda L; Cloughesy, Timothy C TC; Mischel, Paul S PS; Mellinghoff, Ingo K IK; Chan, Timothy A TA
Publication Date: 2013-03

Variant appearance in text: FAT1: Ile2004Met
PubMed Link: 23354438
Variant Present in the following documents:
  • Main text
View BVdb publication page