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 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE We conclude that tissue levels of FGFR2 mRNA are unaltered in breast cancer extracts and that the splicing mechanism for this exon selection appears not to be significantly disrupted. 8814701 1996
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE The level of FGFR-2-IIIb present on breast cancer cell lines was sufficient for KGF stimulation of breast cancer cell proliferation. 9184170 1997
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 Biomarker disease BEFREE A breast cancer cell line developed in our laboratory, SUM-52PE, was shown to have a 12-fold amplification of the FGFR2 gene, and FGFR2 message was found to be overexpressed 40-fold in SUM-52PE cells as compared with normal human mammary epithelial (HME) cells. 11056689 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE In conclusion, three consecutive microarray (CGH, cDNA and tissue) experiments revealed high-level amplification and overexpression of the FGFR2 in a breast cancer cell line, but only a low frequency of involvement in primary breast tumors. 11564899 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE A breast cancer cell line developed in our laboratory (SUM-52PE) has a 12-fold amplification and high-level overexpression of the oncogene fibroblast growth factor receptor 2 (FGFR2). 15561780 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE Gene amplification and protein overexpression of fibroblast growth factor receptor 2 (FGFR2) characterize the SUM-52 breast cancer cell line developed in our laboratory. 17133345 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE TC-1 was down regulated by the FGFR inhibitor PD173074 in the breast cancer cell line SUM-52 that also has an FGFR2 gene amplification and over expression. 17520678 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease CTD_human Genome-wide association study identifies novel breast cancer susceptibility loci. 17529967 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease GWASCAT Genome-wide association study identifies novel breast cancer susceptibility loci. 17529967 2007
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 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 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 We also noted a correlation between the number of minor alleles of rs2981582 in FGFR2 and the average number of first-degree and second-degree relatives with breast cancer and/or ovarian cancer (P = 0.05). 17997823 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We genotyped 13 single nucleotide polymorphisms (SNPs) densely covering a 27 kb region within intron 2 of FGFR2 including two SNPs (rs2981582 and rs1219648) significantly associated with breast cancer and a total 40 tagSNPs across 150 kb of the FGFR2 gene. 18285324 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We obtained a significant allele P value of association with AJ breast cancer in the FGFR2 region (P = 1.5 x 10(-5), odds ratio (OR) 1.26, 95% confidence interval (CI) 1.13-1.40 at rs1078806 for all phases combined). 18326623 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE We found FGFR2 IIIb C2 expression in breast carcinoma cell lines and, additionally, expression of the mesenchymal-specific FGFR2 IIIc splice variant in invasive breast carcinomas. 18337450 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers. 18355772 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific protein 1 (LSP1)) associated with breast cancer risk. 18437204 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease CTD_human Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. 18438407 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. 18462018 2008
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 AlteredExpression disease BEFREE Small interfering RNA was transfected into a human keratinocyte cell line (HaCaT), a breast cancer derived cell line (MCF-7) and a keratinocyte primary culture (KCs) to induce selective downregulation of KGFR expression. 18575591 2008
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