FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: BREAST CANCER, SOMATIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520029
rs1057520029
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C4016282
Disease:
BREAST CANCER, SOMATIC 		0.010 GeneticVariation BEFREE We have analyzed the tyrosine kinase activity of p.K660N and another recently described somatic breast cancer mutation in FGFR2, p.R203C, after expression in HEK293 cells and demonstrated that the intrinsic tyrosine kinase activity of both mutant proteins is strongly increased resulting in elevated phosphorylation and activity of downstream effectors. 23527311 2013