FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease GWASCAT We identified four SNPs in intron 2 of FGFR2 (which encodes a receptor tyrosine kinase and is amplified or overexpressed in some breast cancers) that were highly associated with breast cancer and confirmed this association in 1,776 affected individuals and 2,072 controls from three additional studies. 17529973 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Rather, the observed increased risk of developing breast cancer might be the result of a coordinated effect of multiple SNPs forming a risk haplotype in the second intron of FGFR2. 24265722 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE These data provide evidence that genetic variation in FGFR2 influences radiation-induced breast cancer risk. 22144180 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE Moreover, signaling through FGFR2, a known risk factor in breast cancer development, augmented these interactions and further repressed ESR1 target gene expression. 29180470 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Other genes conferring an increased risk for breast cancer include ATM, CHEK2, PALB2, BRIP1 and genome-wide association studies have identified lower penetrance alleles including FGFR2, a minor allele of which is associated with breast cancer. 18575892 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE One-third of these loci affected breast cancer oncogenes, whose amplifications were validated with specific probes: 17q12 (two cell lines with ERBB2 amplifications), 11q13 (two with cyclin-D1), 8p11-p12 (two with FGFR1) and 10q25 (one with FGFR2). 10604729 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease GWASCAT Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci. 27354352 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE The FGFR2 locus is known to be associated with breast cancer risk. 27764800 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease CTD_human We identified four SNPs in intron 2 of FGFR2 (which encodes a receptor tyrosine kinase and is amplified or overexpressed in some breast cancers) that were highly associated with breast cancer and confirmed this association in 1,776 affected individuals and 2,072 controls from three additional studies. 17529973 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Recent studies have linked FGFR1 expression and single nucleotide polymorphisms in FGFR2 to breast cancer. 19601767 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE There was no significant association between the risk of breast cancer and FGFR2 (C906T). 19469636 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Genetic variation in FGFR2, identified by rs1219648, may account for a substantial fraction of breast cancer in Arab (12%), Ashkenazi (15%), and Sephardi Jewish (22%) populations. 18483326 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Only 5 out of 9 GWAS breast cancer loci were found to be significantly associated with breast cancer in Tunisians: The rs1219648 (G vs. A allele: OR = 1.36, P = 1 × 10(-3)) and rs2981582 (A vs. G allele: OR = 1.55, P = 3 × 10(-6)) of FGFR2 gene; the rs8051542 of the TNRC9 gene (T vs. C allele: OR = 1.40, P = 4 × 10(-4)); the rs889312 of the MAP3K1 gene (C vs. A allele: OR = 1.33, P = 3 × 10(-3)) and the rs13281615 located on 8q24 (G vs. A allele: OR = 1.21, P = 0.03). 22910930 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE In tumor cell lines displaying molecular alterations in potential nintedanib targets, the inhibitor demonstrates direct antiproliferative effects: in the NSCLC cell line NCI-H1703 carrying a PDGFR<i>α</i> amplification (ampl.); the gastric cancer cell line KatoIII and the breast cancer cell line MFM223, both driven by a FGFR2 amplification; AN3CA (endometrial carcinoma) bearing a mutated FGFR2; the acute myeloid leukemia cell lines MOLM-13 and MV-4-11-B with FLT3 mutations; and the NSCLC adenocarcinoma LC-2/ad harboring a CCDC6-RET fusion. 29263244 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We interrogated eight SNPs in intron 2 of the FGFR2 gene for 1,676 women who developed breast cancer during trial follow-up (1993-2005). 20056625 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE When qPCR-identified amplifications in FGFR1, FGFR2, or FGF3 were grouped to define an FGF pathway-amplified breast cancer in HR-positive patients, the mean reduction in target lesions was 21.1% compared with a 12.0% increase in patients who did not present with FGF pathway-amplified breast cancer. 23658459 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. 23893088 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE The FGFR2 gene was associated with risk of overall breast cancer (P = 0.002) and ER-positive breast cancer (P = 0.002). 26743380 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. 23544012 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE These results confirm that FGFR2 and MAP3K1 are involved in breast cancer susceptibility and confer their effects primarily in ER+ and PR+ tumors. 19028704 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Fibroblast growth factor 1 (FGF1) and RNA binding protein fox-1 homolog 2 (RBFOX2), which are functionally related to FGFR2, may also associate with breast cancer risk. 23143756 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease GWASCAT A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). 19330030 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE The distribution of genotypes of 2q35 were significantly different between the breast cancer group and the control group (p=0.035), while the distributions for 3p24, 17q23, and FGFR2 did not produce statistically significant differences (p>0.05). 22287734 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We have revealed significant association of FGFR2 and MAP3K1 polymorphisms with breast cancer. 29372690 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Significant association with BC was confirmed in 2 SNPs: rs2981582 FGFR2 and rs889312 MAP3K1, and the odds ratios of homozygotes with two risk alleles in both SNP's were higher than in heterozygotes with one mutant allele, as follows: FGFR2 TT: 1.953 (95%CI 1.014-3.834, p = 0.049), CT 1.771 (95%CI 1.088-2.899, p = 0.026) and MAP3K1 CC 2.894 (95%CI 1.028-9.566, p = 0.048), AC 1.760 (95%CI 1.108-2.813, p = 0.019). 31002855 2019