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 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: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 GeneticVariation disease BEFREE When grown in the absence of cholesterol to stimulate cholesterol biosynthesis, the cells from the ABS patient with ambiguous genitalia but without an FGFR2 mutation accumulated markedly increased levels of lanosterol and dihydrolanosterol. 12116245 2002
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Well-to-moderately differentiated cancers also exhibited high FGFR-2 IIIb and low FGFR-2 IIIc expression, whereas this ratio was reversed in the poorly differentiated cancers. 24077287 2014
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones. 24489893 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 Biomarker disease BEFREE We thus propose a molecular mechanism by which FGFR2 can confer increased breast cancer risk that is consistent with oestrogen exposure as a major driver of breast cancer risk. 27236187 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 Biomarker disease BEFREE We thus propose a molecular mechanism by which FGFR2 can confer increased breast cancer risk that is consistent with oestrogen exposure as a major driver of breast cancer risk. 27236187 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 GeneticVariation disease BEFREE We tested the cytotoxicity of AL3818 on a panel of 7 human endometrial cancer cell lines expressing either wild-type or mutant FGFR2 and also assessed the in vivo antitumor efficacy in a murine, orthotopic AN3CA endometrial cancer model. 28953502 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.400 GeneticVariation disease BEFREE We tested the cytotoxicity of AL3818 on a panel of 7 human endometrial cancer cell lines expressing either wild-type or mutant FGFR2 and also assessed the in vivo antitumor efficacy in a murine, orthotopic AN3CA endometrial cancer model. 28953502 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.070 Biomarker disease BEFREE We stably overexpressed the FN target, MAGE A3, which has also been identified as a target of the breast cancer risk factor fibroblast growth factor receptor 2, and examined the functional effects in vitro and in vivo in a flank model and an orthotopic model of thyroid cancer. 18829569 2008
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.060 Biomarker disease BEFREE We stably overexpressed the FN target, MAGE A3, which has also been identified as a target of the breast cancer risk factor fibroblast growth factor receptor 2, and examined the functional effects in vitro and in vivo in a flank model and an orthotopic model of thyroid cancer. 18829569 2008
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.050 Biomarker disease BEFREE We stably overexpressed the FN target, MAGE A3, which has also been identified as a target of the breast cancer risk factor fibroblast growth factor receptor 2, and examined the functional effects in vitro and in vivo in a flank model and an orthotopic model of thyroid cancer. 18829569 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 Biomarker disease BEFREE We stably overexpressed the FN target, MAGE A3, which has also been identified as a target of the breast cancer risk factor fibroblast growth factor receptor 2, and examined the functional effects in vitro and in vivo in a flank model and an orthotopic model of thyroid cancer. 18829569 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 Biomarker disease BEFREE We stably overexpressed the FN target, MAGE A3, which has also been identified as a target of the breast cancer risk factor fibroblast growth factor receptor 2, and examined the functional effects in vitro and in vivo in a flank model and an orthotopic model of thyroid cancer. 18829569 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 AlteredExpression phenotype BEFREE We speculate that FGFR-2 down-modulation might be an early event in thyroid carcinogenesis. 23977259 2013
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.210 Biomarker group BEFREE We sought to determine whether this change in FGF-R2 splicing is also associated with androgen insensitivity in human prostate tumors. 9444954 1997
CUI: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis 		0.320 GeneticVariation disease BEFREE We sequenced the POR gene and FGFR2 exons 8 and 10 in 32 individuals with ABS and/or hormonal findings that suggested POR deficiency. 15793702 2005
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
CONSTRICTING BANDS, CONGENITAL 		0.050 GeneticVariation disease BEFREE We sequenced the POR gene and FGFR2 exons 8 and 10 in 32 individuals with ABS and/or hormonal findings that suggested POR deficiency. 15793702 2005
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE We screened the 10q locus for loss of heterozygosity and the promoter methylation status of PTEN, MGMT, MXI1, and FGFR2 in neuroblastic tumors and neuroblastoma cell lines. 17350460 2007
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE We screened the 10q locus for loss of heterozygosity and the promoter methylation status of PTEN, MGMT, MXI1, and FGFR2 in neuroblastic tumors and neuroblastoma cell lines. 17350460 2007
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE We screened the 10q locus for loss of heterozygosity and the promoter methylation status of PTEN, MGMT, MXI1, and FGFR2 in neuroblastic tumors and neuroblastoma cell lines. 17350460 2007
CUI: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors 		0.010 Biomarker disease BEFREE We screened the 10q locus for loss of heterozygosity and the promoter methylation status of PTEN, MGMT, MXI1, and FGFR2 in neuroblastic tumors and neuroblastoma cell lines. 17350460 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.070 PosttranslationalModification disease BEFREE We reported recently that FGF receptor 2 (FGFR2) is down-regulated through extensive DNA promoter methylation in thyroid cancer. 17699848 2007
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.060 PosttranslationalModification disease BEFREE We reported recently that FGF receptor 2 (FGFR2) is down-regulated through extensive DNA promoter methylation in thyroid cancer. 17699848 2007
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.050 PosttranslationalModification disease BEFREE We reported recently that FGF receptor 2 (FGFR2) is down-regulated through extensive DNA promoter methylation in thyroid cancer. 17699848 2007
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.760 GeneticVariation disease UNIPROT We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. 9385368 1997