Gene: FGFR2

Alternate names for this Gene: BBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25

Gene Summary: The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q26.13

Description of this Gene: fibroblast growth factor receptor 2

Type of Gene: protein-coding

rs79184941 in FGFR2 gene and Acrocephalosyndactylia PMID 10851026 2000 Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts.

rs11200014 in FGFR2 gene and Adenocarcinoma of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs1057519045 in FGFR2 gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs121918488 in FGFR2 gene and Antley-Bixler Syndrome, Autosomal Dominant PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

rs1057519036 in FGFR2 gene and Apert syndrome PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 10394936 1999 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

PMID 24656465 2014 Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 7581378 1995 Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 29037998 2018 Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.

PMID 27683237 2017 Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PMID 23348274 2013 FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

PMID 9002682 1997 The observation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome.

PMID 7719344 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

PMID 15190072 2004 Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.

PMID 7668257 1995 Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

PMID 9452027 1998 Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.

PMID 11390973 2001 Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.

PMID 10406670 1999 Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

PMID 8946174 1996 Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

PMID 18391498 2008 Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

PMID 16418739 2006 Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

PMID 9002682 1997 In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals.

PMID 7719344 1995 We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.

PMID 11390973 2001 Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

PMID 14499350 2003 Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients.

PMID 15975938 2005 Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.

PMID 11390973 2001 Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.

PMID 7719344 1995 We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.

PMID 24489893 2014 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.

PMID 11121055 2000 Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

PMID 23546041 2013 We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively.

rs3135753 in FGFR2 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs387906677 in FGFR2 gene and BENT BONE DYSPLASIA SYNDROME PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

rs2981575 in FGFR2 gene and Benign Prostatic Hyperplasia PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs10510097 in FGFR2 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 27354352 2016 Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.

PMID 20872241 2011 A combined analysis of genome-wide association studies in breast cancer.

PMID 17529973 2007 A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.

PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

PMID 23544012 2013 Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

PMID 24493630 2014 A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

PMID 21060860 2010 FGFR2 rs2981575 had the strongest association with breast cancer risk (per allele HR = 1.28, 95% CI 1.18-1.39, ).

PMID 24143190 2013 Genome-wide association study of breast cancer in the Japanese population.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

PMID 19330030 2009 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

PMID 27764800 2016 Strong association between the FGFR2 locus and ER status of breast cancer patients was observed (ER-positive n=6211, ER-negative n=2516; rs3135718 OR=1.34 p=5.46×10-12).

PMID 27764800 2016 GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients.

PMID 22951594 2012 In addition, rs3750817 in intron 2 of the fibroblast growth factor receptor 2 gene, which was reported to be associated with breast cancer susceptibility, was significantly replicated with P(combined) of 8.47 × 10(-8) with OR=1.22.

rs11200014 in FGFR2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11200014 in FGFR2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11200014 in FGFR2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11200014 in FGFR2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11200014 in FGFR2 gene and Carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11200014 in FGFR2 gene and Colorectal Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11200014 in FGFR2 gene and Colorectal Neoplasms PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs121918487 in FGFR2 gene and Craniofacial dysostosis type 1 PMID 9152842 1997 A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 8956050 1996 Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

PMID 7581378 1995 Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

PMID 8528214 1995 Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 8946174 1996 Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

PMID 11380921 2001 Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 10851026 2000 To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells.

PMID 10574673 1999 A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 7581378 1995 We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.

PMID 27481450 2016 FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

PMID 27028366 2016 Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 15389579 2005 P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.

PMID 17251833 2007 Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.

PMID 25867380 2015 Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.

PMID 20489451 2010 Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.

PMID 7719344 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

PMID 7668257 1995 Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

PMID 8651276 1996 Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

PMID 24656465 2014 We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).

PMID 9700203 1998 Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

rs1057520044 in FGFR2 gene and Craniosynostosis PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

rs1057519037 in FGFR2 gene and Cutis Gyrata Syndrome of Beare And Stevenson PMID 25361936 2014 Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 23348274 2013 FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

PMID 8946174 1996 Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

PMID 12575301 2002 [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases].

PMID 23754559 2013 Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.

PMID 8696350 1996 Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

PMID 12000365 2002 Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.

PMID 9586546 1998 Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 12884434 2003 Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].

PMID 27481450 2016 FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 12884424 2003 Screening of patients with craniosynostosis: molecular strategy.

PMID 16158432 2005 Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.

PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PMID 7773284 1995 Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.

PMID 7558045 1995 A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 16838304 2006 Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

PMID 8957519 1996 FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

PMID 25425289 2015 A novel mutation in FGFR2.

rs121918490 in FGFR2 gene and Dysmorphic features PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 16740155 2006 Pfeiffer syndrome.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

rs1057519854 in FGFR2 gene and Endometrial Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 17525745 2007 Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

PMID 21367659 2011 Targeting mutant fibroblast growth factor receptors in cancer.

rs11200014 in FGFR2 gene and Endometrioid carcinoma ovary PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs1057519900 in FGFR2 gene and Esophageal carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs3135718 in FGFR2 gene and Estrogen Receptor Status - Clinical Trial Eligibility Criteria PMID 27764800 2016 Strong association between the FGFR2 locus and ER status of breast cancer patients was observed (ER-positive n=6211, ER-negative n=2516; rs3135718 OR=1.34 p=5.46×10-12).

PMID 27764800 2016 GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients.

rs1057519900 in FGFR2 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs3135753 in FGFR2 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs77543610 in FGFR2 gene and Head and Neck Neoplasms PMID 23786770 2013 Inhibitor-sensitive FGFR2 and FGFR3 mutations in lung squamous cell carcinoma.

rs121918487 in FGFR2 gene and JACKSON-WEISS SYNDROME PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 20133659 2010 Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.

PMID 8650126 1996 First-trimester prenatal diagnosis of Crouzon syndrome.

PMID 15316116 2004 A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 8755573 1996 Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.

PMID 22558232 2012 Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.

PMID 9385368 1997 Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 8528214 1995 In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer.

PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 7989400 1994 Steroids in multiple sclerosis.

PMID 27028366 2016 Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

PMID 12884424 2003 Screening of patients with craniosynostosis: molecular strategy.

PMID 16418739 2006 Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

PMID 17693524 2007 Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

PMID 8528214 1995 Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

PMID 23348274 2013 FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

PMID 25361936 2014 Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

PMID 10874645 1999 Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.

rs121918508 in FGFR2 gene and Lacrimoauriculodentodigital syndrome PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 18056630 2007 Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.

rs2981575 in FGFR2 gene and Lower Urinary Tract Symptoms PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs1057519045 in FGFR2 gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs10736303 in FGFR2 gene and Malignant neoplasm of breast PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

PMID 20872241 2011 A combined analysis of genome-wide association studies in breast cancer.

PMID 17529973 2007 A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.

PMID 24143190 2013 Genome-wide association study of breast cancer in the Japanese population.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 19330030 2009 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

PMID 22951594 2012 In addition, rs3750817 in intron 2 of the fibroblast growth factor receptor 2 gene, which was reported to be associated with breast cancer susceptibility, was significantly replicated with P(combined) of 8.47 × 10(-8) with OR=1.22.

rs11200014 in FGFR2 gene and Malignant neoplasm of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11200014 in FGFR2 gene and Malignant tumor of colon PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs1057519045 in FGFR2 gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918490 in FGFR2 gene and Multiple congenital anomalies PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 16740155 2006 Pfeiffer syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

rs1057519045 in FGFR2 gene and Nasopharyngeal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1219648 in FGFR2 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs2981579 in FGFR2 gene and Oestrogen receptor positive breast cancer PMID 28864454 2017 Genome-Wide Testing of Exonic Variants and Breast Cancer Risk in the California Teachers Study.

rs11200014 in FGFR2 gene and Ovarian Serous Adenocarcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs121918490 in FGFR2 gene and Overgrowth PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

PMID 16740155 2006 Pfeiffer syndrome.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

rs121913478 in FGFR2 gene and Pfeiffer Syndrome PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 9002682 1997 Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

PMID 9693549 1998 Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

PMID 9150725 1997 Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 7719345 1995 Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

PMID 16844695 2006 Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 7719333 1995 FGFR2 mutations in Pfeiffer syndrome.

PMID 9719378 1998 Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

PMID 10945669 2000 Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.

PMID 10394936 1999 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 25759925 2015 The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.

PMID 12884424 2003 Screening of patients with craniosynostosis: molecular strategy.

PMID 9150725 1997 Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

PMID 9693549 1998 Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

PMID 7795583 1995 Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

PMID 9462761 1998 Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.

PMID 8651276 1996 Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

PMID 25867380 2015 Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.

PMID 7719344 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

PMID 11390973 2001 Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.

PMID 22664175 2012 Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome.

PMID 24489893 2014 A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.

PMID 23495007 2013 The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.

rs11200014 in FGFR2 gene and Prostate carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs4752569 in FGFR2 gene and Prostate specific antigen measurement PMID 28139693 2017 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.

rs121918507 in FGFR2 gene and SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

rs1057519791 in FGFR2 gene and Squamous cell carcinoma of lung PMID 23786770 2013 Inhibitor-sensitive FGFR2 and FGFR3 mutations in lung squamous cell carcinoma.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs79184941 in FGFR2 gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519045 in FGFR2 gene and endometrial adenoacanthoma PMID 23908597 2013 The N550K/H mutations in FGFR2 confer differential resistance to PD173074, dovitinib, and ponatinib ATP-competitive inhibitors.

PMID 22238366 2012 Ponatinib (AP24534), a multitargeted pan-FGFR inhibitor with activity in multiple FGFR-amplified or mutated cancer models.

PMID 23002168 2012 FGFR genetic alterations predict for sensitivity to NVP-BGJ398, a selective pan-FGFR inhibitor.

PMID 18552176 2008 Drug-sensitive FGFR2 mutations in endometrial carcinoma.

rs11200014 in FGFR2 gene and ovarian neoplasm PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.