FGFR2

Summary

Gene Symbol: FGFR2
Description: fibroblast growth factor receptor 2
Alias: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25, fibroblast growth factor receptor 2, BEK fibroblast growth factor receptor, bacteria-expressed kinase, keratinocyte growth factor receptor, protein tyrosine kinase, receptor like 14
Species: human
Products:     FGFR2

Top Publications

  1. Barnholtz Sloan J, Shetty P, Guan X, Nyante S, Luo J, Brennan D, et al. FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women. Carcinogenesis. 2010;31:1417-23 pubmed publisher
    ..In the entire study population, 9/10 SNPs in fibroblast growth factor receptor 2 (FGFR2) were significantly associated with breast cancer after adjusting for age, race and European ..
  2. Kress W, Collmann H, Busse M, Halliger Keller B, Mueller C. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet. 2000;91:134-7 pubmed
    ..Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the ..
  3. Gilbert E, Del Gatto F, Champion Arnaud P, Gesnel M, Breathnach R. Control of BEK and K-SAM splice sites in alternative splicing of the fibroblast growth factor receptor 2 pre-mRNA. Mol Cell Biol. 1993;13:5461-8 pubmed
    The fibroblast growth factor receptor 2 gene pre-mRNA can be spliced by using either the K-SAM exon or the BEK exon. The exon chosen has a profound influence on the ligand-binding specificity of the receptor obtained...
  4. Oldridge M, Lunt P, Zackai E, McDonald McGinn D, Muenke M, Moloney D, et al. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet. 1997;6:137-43 pubmed
    Dominantly acting, allelic mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been described in five craniosynostosis syndromes...
  5. Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia P. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet. 1997;99:602-6 pubmed
    ..Mutations in the genes encoding fibroblast growth factor receptors 1 and 2 (FGFR1 and FGFR2) have recently been implicated in the aetiology of such a syndrome, as well as of other craniosynostotic ..
  6. Meyers G, Day D, Goldberg R, Daentl D, Przylepa K, Abrams L, et al. 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. Am J Hum Genet. 1996;58:491-8 pubmed
    b>Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes...
  7. Ornitz D, Xu J, Colvin J, McEwen D, MacArthur C, Coulier F, et al. Receptor specificity of the fibroblast growth factor family. J Biol Chem. 1996;271:15292-7 pubmed
    ..These data should serve as a biochemical foundation for determining developmental, physiological, and pathophysiological processes that involve FGF signaling pathways. ..
  8. Fu F, Wang C, Huang M, Song C, Lin S, Huang H. Polymorphisms in second intron of the FGFR2 gene are associated with the risk of early-onset breast cancer in Chinese Han women. Tohoku J Exp Med. 2012;226:221-9 pubmed
    b>Fibroblast growth factor receptor 2 (FGFR2) plays an important role in tumor cell growth, invasiveness, motility, and angiogenesis...
  9. Warzecha C, Sato T, Nabet B, Hogenesch J, Carstens R. ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing. Mol Cell. 2009;33:591-601 pubmed publisher
    Cell-type-specific expression of epithelial and mesenchymal isoforms of Fibroblast Growth Factor Receptor 2 (FGFR2) is achieved through tight regulation of mutually exclusive exons IIIb and IIIc, respectively...

More Information

Publications98

  1. Hatch N, Hudson M, Seto M, Cunningham M, Bothwell M. Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. J Biol Chem. 2006;281:27292-305 pubmed
    ..Additionally, we show that trafficking and autoactivation of wild type FGFR2 is glycosylation-dependent...
  2. Matsumoto K, Arao T, Hamaguchi T, Shimada Y, Kato K, Oda I, et al. FGFR2 gene amplification and clinicopathological features in gastric cancer. Br J Cancer. 2012;106:727-32 pubmed publisher
    Frequency of FGFR2 amplification, its clinicopathological features, and the results of high-throughput screening assays in a large cohort of gastric clinical samples remain largely unclear...
  3. Lapunzina P, Fernández A, Sánchez Romero J, Delicado A, Sáenz de Pipaón M, Lopez Pajares I, et al. A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail. Birth Defects Res A Clin Mol Teratol. 2005;73:61-4 pubmed
    Mutations in the FGFR2 gene are present in several syndromes with craniosynostosis, such as Pfeiffer's, Apert's, and Crouzon's.
  4. Johnson D, Wall S, Mann S, Wilkie A. A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?. Eur J Hum Genet. 2000;8:571-7 pubmed
    ..We describe a novel heterozygous mutation of FGFR2 (943G --> T, encoding the amino acid substitution Ala315Ser) in a girl with non-syndromic unicoronal ..
  5. Hunter D, Kraft P, Jacobs K, Cox D, Yeager M, Hankinson S, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007;39:870-4 pubmed
    ..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 ..
  6. Esteban Cardeñosa E, de Juan Jiménez I, Palanca Suela S, Chirivella González I, Segura Huerta A, Santaballa Beltran A, et al. Low penetrance alleles as risk modifiers in familial and sporadic breast cancer. Fam Cancer. 2012;11:629-36 pubmed publisher
    ..of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk ..
  7. Jang J, Shin K, Park J. Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. Cancer Res. 2001;61:3541-3 pubmed
    ..Here we report two identical mutations in FGFR2 that cause craniosynostosis syndromes, Crouzon, Apert, and Pfeiffer in gastric carcinoma...
  8. Behrens C, Lin H, Lee J, Raso M, Hong W, Wistuba I, et al. Immunohistochemical expression of basic fibroblast growth factor and fibroblast growth factor receptors 1 and 2 in the pathogenesis of lung cancer. Clin Cancer Res. 2008;14:6014-22 pubmed publisher
    ..bronchial epithelial specimens (n = 426) were analyzed for the immunohistochemical expression of bFGF, FGFR1, and FGFR2, and the findings were correlated with clinicopathologic features of the patients...
  9. Moloney D, Slaney S, Oldridge M, Wall S, Sahlin P, Stenman G, et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996;13:48-53 pubmed
    ..from one or other of two specific nucleotide substitutions, both C-->G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene...
  10. Bernard Pierrot I, Ricol D, Cassidy A, Graham A, Elvin P, Caillault A, et al. Inhibition of human bladder tumour cell growth by fibroblast growth factor receptor 2b is independent of its kinase activity. Involvement of the carboxy-terminal region of the receptor. Oncogene. 2004;23:9201-11 pubmed
    The b isoform of fibroblast growth factor receptor 2, FGFR2b/FGFR2-IIIb/Ksam-IIC1/KGFR, a tyrosine kinase receptor, is expressed in a wide variety of epithelia and is downregulated in several human carcinomas including prostate, salivary ..
  11. Ibrahimi O, Eliseenkova A, Plotnikov A, Yu K, Ornitz D, Mohammadi M. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc Natl Acad Sci U S A. 2001;98:7182-7 pubmed
    ..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...
  12. Jung E, Jung E, Min S, Kim M, Kim W. Fibroblast growth factor receptor 2 gene amplification status and its clinicopathologic significance in gastric carcinoma. Hum Pathol. 2012;43:1559-66 pubmed publisher
    b>Fibroblast growth factor receptor 2 is a member of receptor tyrosine kinase family, and fibroblast growth factor receptor 2 gene amplification or missense mutation has been observed in various human cancers, including gastric carcinoma...
  13. Belleudi F, Purpura V, Scrofani C, Persechino F, Leone L, Torrisi M. Expression and signaling of the tyrosine kinase FGFR2b/KGFR regulates phagocytosis and melanosome uptake in human keratinocytes. FASEB J. 2011;25:170-81 pubmed publisher
    ..growth factor KGF/FGF7 promotes the melanosome uptake through activation of its receptor tyrosine kinase FGFR2b/KGFR. The aim of the present study was to investigate the contribution of KGFR expression, activation, and signaling in ..
  14. Cho K, Ishiwata T, Uchida E, Nakazawa N, Korc M, Naito Z, et al. Enhanced expression of keratinocyte growth factor and its receptor correlates with venous invasion in pancreatic cancer. Am J Pathol. 2007;170:1964-74 pubmed
    Keratinocyte growth factor (KGF) and KGF receptor (KGFR) have been implicated in cancer growth as well as tissue development and repair...
  15. Pollock P, Gartside M, Dejeza L, Powell M, Mallon M, Davies H, et al. Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene. 2007;26:7158-62 pubmed
    ..We have identified a total of 11 different FGFR2 mutations in 3/10 (30%) of endometrial cell lines and 19/187 (10%) of primary uterine tumors...
  16. Zhang C, Fu L, Fu J, Hu L, Yang H, Rong T, et al. Fibroblast growth factor receptor 2-positive fibroblasts provide a suitable microenvironment for tumor development and progression in esophageal carcinoma. Clin Cancer Res. 2009;15:4017-27 pubmed publisher
    ..Up-regulation of fibroblast growth factor receptor 2 (FGFR2), which showed the most significant change, was detected in all six tested TFs compared with ..
  17. Elgazzar S, Zembutsu H, Takahashi A, Kubo M, Aki F, Hirata K, et al. A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese. J Hum Genet. 2012;57:766-71 pubmed publisher
    ..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 ..
  18. Antoniou A, Spurdle A, Sinilnikova O, Healey S, Pooley K, Schmutzler R, et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008;82:937-48 pubmed publisher
    ..A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the ..
  19. Gartside M, Chen H, Ibrahimi O, Byron S, Curtis A, Wellens C, et al. Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma. Mol Cancer Res. 2009;7:41-54 pubmed publisher
    We report that 10% of melanoma tumors and cell lines harbor mutations in the fibroblast growth factor receptor 2 (FGFR2) gene...
  20. Katoh M, Katoh M. FGFR2 and WDR11 are neighboring oncogene and tumor suppressor gene on human chromosome 10q26. Int J Oncol. 2003;22:1155-9 pubmed
    ..b>FGFR2 gene on human chromosome 10q26 is amplified in diffuse-type gastric cancer, while WDR11 gene on human chromosome ..
  21. Kan S, Elanko N, Johnson D, Cornejo Roldan L, Cook J, Reich E, et al. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet. 2002;70:472-86 pubmed
    ..of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth...
  22. Przylepa K, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad M, et al. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996;13:492-4 pubmed
    ..Mutations in Crouzon, Jackson-Weiss, Pfeiffer and Apert syndromes have been reported in the FGFR2 extracellular domain...
  23. Goriely A, McVean G, van Pelt A, O rourke A, Wall S, de Rooij D, et al. Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci U S A. 2005;102:6051-6 pubmed
    ..C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth ..
  24. Mauger D, Lin C, Garcia Blanco M. hnRNP H and hnRNP F complex with Fox2 to silence fibroblast growth factor receptor 2 exon IIIc. Mol Cell Biol. 2008;28:5403-19 pubmed publisher
    ..In this study, we identify hnRNP H and hnRNP F proteins as being novel silencers of fibroblast growth factor receptor 2 exon IIIc...
  25. Udler M, Meyer K, Pooley K, Karlins E, Struewing J, Zhang J, et al. FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Hum Mol Genet. 2009;18:1692-703 pubmed publisher
    Genome-wide association studies have identified FGFR2 as a breast cancer (BC) susceptibility gene in populations of European and Asian descent, but a causative variant has not yet been conclusively identified...
  26. Garcia Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson D, et al. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet. 2008;4:e1000054 pubmed publisher
    ..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-..
  27. Fletcher M, Castro M, Wang X, de Santiago I, O Reilly M, Chin S, et al. Master regulators of FGFR2 signalling and breast cancer risk. Nat Commun. 2013;4:2464 pubmed publisher
    The fibroblast growth factor receptor 2 (FGFR2) locus has been consistently identified as a breast cancer risk locus in independent genome-wide association studies...
  28. Liao R, Jung J, Tchaicha J, Wilkerson M, Sivachenko A, Beauchamp E, et al. Inhibitor-sensitive FGFR2 and FGFR3 mutations in lung squamous cell carcinoma. Cancer Res. 2013;73:5195-205 pubmed publisher
    ..Here, we describe the oncogenic nature of mutations observed in FGFR2 and FGFR3, each of which are observed in 3% of samples, for a mutation rate of 6% across both genes...
  29. Zhu X, Asa S, Ezzat S. Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer. Mol Endocrinol. 2009;23:1397-405 pubmed publisher
    ..In particular, the disease-predisposing allele of FGFR2 is inherited as a 7.5-kb region within intron 2 that harbors eight single nucleotide polymorphisms...
  30. Kim S, Dubrovska A, Salamone R, Walker J, Grandinetti K, Bonamy G, et al. FGFR2 promotes breast tumorigenicity through maintenance of breast tumor-initiating cells. PLoS ONE. 2013;8:e51671 pubmed publisher
    ..Gene expression analysis and immunostaining of TICs and non-TICs revealed that FGFR2 was preferentially expressed in TICs...
  31. Liu Y, Shen D, Yin X, Gavine P, Zhang T, Su X, et al. HER2, MET and FGFR2 oncogenic driver alterations define distinct molecular segments for targeted therapies in gastric carcinoma. Br J Cancer. 2014;110:1169-78 pubmed publisher
    ..of several known therapeutics targets, human epidermal growth factor receptor 2 (HER2), MET and fibroblast growth factor receptor 2 (FGFR2), within GC using clinically approved or investigational kits and scoring criteria...
  32. Sun C, Olopade O, Di Rienzo A. rs2981582 is associated with FGFR2 expression in normal breast. Cancer Genet Cytogenet. 2010;197:193-4 pubmed publisher
  33. Wang H, Yang Z, Zhang H. Assessing interactions between the associations of fibroblast growth factor receptor 2 common genetic variants and hormone receptor status with breast cancer risk. Breast Cancer Res Treat. 2013;137:511-22 pubmed publisher
    b>Fibroblast growth factor receptor 2 (FGFR2) is a member of a receptor tyrosine kinase gene superfamily, involved in cell growth, invasiveness, motility, and angiogenesis, which has attracted considerable attention as a candidate gene for ..
  34. Everett E, Britto D, Ward R, Hartsfield J. A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. Cleft Palate Craniofac J. 1999;36:533-41 pubmed
    To determine whether specific mutations within the fibroblast growth factor receptor 2 (FGFR2) gene that are associated with Crouzon syndrome can be present in an individual who had been assumed to be "clinically normal."
  35. Glaser R, Jiang W, Boyadjiev S, Tran A, Zachary A, Van Maldergem L, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000;66:768-77 pubmed
    ..are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene...
  36. Belleudi F, Ceridono M, Capone A, Serafino A, Marchese C, Picardo M, et al. The endocytic pathway followed by the keratinocyte growth factor receptor. Histochem Cell Biol. 2002;118:1-10 pubmed
    ..activates a receptor tyrosine kinase, the KGF receptor (KGFR), which is a splicing variant of the fibroblast growth factor receptor 2. The endocytic pathway followed by KGF and its receptor was analyzed here using immunofluorescence ..
  37. Li J, Humphreys K, Heikkinen T, Aittomaki K, Blomqvist C, Pharoah P, et al. A combined analysis of genome-wide association studies in breast cancer. Breast Cancer Res Treat. 2011;126:717-27 pubmed publisher
    ..More effort focused in these aspects of oncology can potentially open up promising avenues for the understanding of breast cancer and its prevention. ..
  38. Guenou H, Kaabeche K, Mée S, Marie P. A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. Hum Mol Genet. 2005;14:1429-39 pubmed
    ..In this study, we investigated the role of fibroblast growth factor receptor-2 (Fgfr2) in the abnormal osteoblast differentiation in SCS...
  39. Lin Y, Liang X, Ai S, Chen C, Liu X, Luo L, et al. FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome. Mol Vis. 2012;18:449-54 pubmed
    The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features.
  40. Chen F, Lu M, Lv M, Xue Y, Zhou J, Hu F, et al. Genetic variants of fibroblast growth factor receptor 2 (FGFR2) are associated with breast cancer risk in Chinese women of the Han nationality. Immunogenetics. 2012;64:71-6 pubmed publisher
    b>Fibroblast growth factor receptor 2 (FGFR2), a recently described risk factor for breast cancer, plays important roles in cell growth, invasiveness, motility, and angiogenesis...
  41. Johnson D, Williams L. Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res. 1993;60:1-41 pubmed
  42. Xie L, Su X, Zhang L, Yin X, Tang L, Zhang X, et al. FGFR2 gene amplification in gastric cancer predicts sensitivity to the selective FGFR inhibitor AZD4547. Clin Cancer Res. 2013;19:2572-83 pubmed publisher
    FGFR gene aberrations are associated with tumor growth and survival. We explored the role of FGFR2 amplification in gastric cancer and the therapeutic potential of AZD4547, a potent and selective ATP-competitive receptor tyrosine kinase ..
  43. Zheng W, Cai Q, Signorello L, Long J, Hargreaves M, Deming S, et al. Evaluation of 11 breast cancer susceptibility loci in African-American women. Cancer Epidemiol Biomarkers Prev. 2009;18:2761-4 pubmed publisher
    ..Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be associated with breast cancer risk...
  44. Kawase R, Ishiwata T, Matsuda Y, Onda M, Kudo M, Takeshita T, et al. Expression of fibroblast growth factor receptor 2 IIIc in human uterine cervical intraepithelial neoplasia and cervical cancer. Int J Oncol. 2010;36:331-40 pubmed
    Fibroblast growth factor receptors (FGFRs) 1-3 have IIIb and IIIc isoforms, and we reported that FGFR2 IIIb is highly expressed in cervical keratinizing squamous cell carcinoma (SCC)...
  45. Jara L, Gonzalez Hormazabal P, Cerceño K, Di Capua G, Reyes J, Blanco R, et al. Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population. Breast Cancer Res Treat. 2013;137:559-69 pubmed publisher
    ..One of the strongest associations was found in the FGFR2 gene, and MAP3K1 has been proposed as a low-penetrance BC risk factor...
  46. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet. 2010;42:504-7 pubmed publisher
  47. Huijts P, van Dongen M, de Goeij M, van Moolenbroek A, Blanken F, Vreeswijk M, et al. Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10. Breast Cancer Res. 2011;13:R72 pubmed publisher
    ..and rs2981578, located in a linkage disequilibrium block (LD block) within intron 2 of the fibroblast growth factor receptor 2 gene (FGFR2), are associated with a mildly increased breast cancer risk...
  48. Igarashi M, Finch P, Aaronson S. Characterization of recombinant human fibroblast growth factor (FGF)-10 reveals functional similarities with keratinocyte growth factor (FGF-7). J Biol Chem. 1998;273:13230-5 pubmed
    ..is unique among FGFs in that it binds and signals only through the FGF receptor (FGFR2b) isoform KGF receptor (KGFR) expressed specifically by epithelial cells...
  49. Muh S, Hovhannisyan R, Carstens R. A Non-sequence-specific double-stranded RNA structural element regulates splicing of two mutually exclusive exons of fibroblast growth factor receptor 2 (FGFR2). J Biol Chem. 2002;277:50143-54 pubmed
    Alternative splicing of fibroblast growth factor receptor 2 (FGFR2) mutually exclusive exons IIIb and IIIc represents a tightly regulated and functionally relevant example of post-transcriptional gene regulation...
  50. Goriely A, McVean G, Röjmyr M, Ingemarsson B, Wilkie A. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003;301:643-6 pubmed
    ..Here, we describe a sensitive method to quantify substitutions at nucleotide 755 of the fibroblast growth factor receptor 2 (FGFR2) gene in sperm...
  51. Ingersoll R, Paznekas W, Tran A, Scott A, Jiang G, Jabs E. Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Cytogenet Cell Genet. 2001;94:121-6 pubmed
    Fibroblast growth factor receptors (FGFRs) play an important role in development and tumorigenesis. Mutations in FGFR2 cause more than five craniosynostosis syndromes. The FGFR2 genomic structure is the largest of the FGFR family...
  52. Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, et al. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet. 2006;14:289-98 pubmed
    ..Mutations preferentially occurred in exons 8 and 10 of FGFR2 encoding the third Ig loop of the receptor...
  53. Kondo T, Zheng L, Liu W, Kurebayashi J, Asa S, Ezzat S. Epigenetically controlled fibroblast growth factor receptor 2 signaling imposes on the RAS/BRAF/mitogen-activated protein kinase pathway to modulate thyroid cancer progression. Cancer Res. 2007;67:5461-70 pubmed
    ..In contrast, FGFR2 is down-regulated in neoplastic thyroid cells through DNA promoter methylation...
  54. Ueda T, Sasaki H, Kuwahara Y, Nezu M, Shibuya T, Sakamoto H, et al. Deletion of the carboxyl-terminal exons of K-sam/FGFR2 by short homology-mediated recombination, generating preferential expression of specific messenger RNAs. Cancer Res. 1999;59:6080-6 pubmed
    ..as an amplified gene from human gastric cancer cell line KATOIII, and its product is identical to fibroblast growth factor receptor 2. The K-sam gene is located on human chromosome 10q26 and is preferentially amplified in the poorly ..
  55. Zhang Y, Gorry M, Post J, Ehrlich G. Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family. Gene. 1999;230:69-79 pubmed
    ..Mutations in the human FGFR2 gene have been associated with many craniosynostotic syndromes and malformations, including Crouzon, Pfeiffer, ..
  56. Kunii K, Davis L, Gorenstein J, Hatch H, Yashiro M, Di Bacco A, et al. FGFR2-amplified gastric cancer cell lines require FGFR2 and Erbb3 signaling for growth and survival. Cancer Res. 2008;68:2340-8 pubmed publisher
    ..In a panel of gastric cancer cell lines, fibroblast growth factor receptor 2 (FGFR2) was overexpressed and tyrosine phosphorylated selectively in FGFR2-amplified cell lines ..
  57. Meyer K, Maia A, O Reilly M, Teschendorff A, Chin S, Caldas C, et al. Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol. 2008;6:e108 pubmed publisher
    The recent whole-genome scan for breast cancer has revealed the FGFR2 (fibroblast growth factor receptor 2) gene as a locus associated with a small, but highly significant, increase in the risk of developing breast cancer...
  58. Steinberger D, Vriend G, Mulliken J, Muller U. The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. Hum Genet. 1998;102:145-50 pubmed
    Exons 5 and 7 of the fibroblast growth factor receptor 2 (FGFR2) gene code for immunoglobulin-like domain III (IgIII) and for the region connecting the second and the third Ig domain of the receptor...
  59. Raskin L, Pinchev M, Arad C, Lejbkowicz F, Tamir A, Rennert H, et al. FGFR2 is a breast cancer susceptibility gene in Jewish and Arab Israeli populations. Cancer Epidemiol Biomarkers Prev. 2008;17:1060-5 pubmed publisher
    Genetic variation in FGFR2 is a newly described risk factor for breast cancer...
  60. Lorenzi M, Castagnino P, Chen Q, Chedid M, Miki T. Ligand-independent activation of fibroblast growth factor receptor-2 by carboxyl terminal alterations. Oncogene. 1997;15:817-26 pubmed
    To assess the effect(s) of the C-terminal domain on FGFR2 function, we engineered a series of mutant FGFR2 cDNAs encoding deletions in the C-terminus of the receptor and compared their growth properties in NIH3T3 fibroblasts...
  61. Hughes S. Differential expression of the fibroblast growth factor receptor (FGFR) multigene family in normal human adult tissues. J Histochem Cytochem. 1997;45:1005-19 pubmed
    ..a systematic analysis of the expression of the fibroblast growth factor receptor (FGFR) multigene family (FGFR1, FGFR2, FGFR3, and FGFR4) in archival serial sections of normal human adult tissues representing the major organ systems, ..
  62. Moffa A, Tannheimer S, Ethier S. Transforming potential of alternatively spliced variants of fibroblast growth factor receptor 2 in human mammary epithelial cells. Mol Cancer Res. 2004;2:643-52 pubmed
    ..our laboratory (SUM-52PE) has a 12-fold amplification and high-level overexpression of the oncogene fibroblast growth factor receptor 2 (FGFR2)...
  63. Ibrahimi O, Zhang F, Eliseenkova A, Itoh N, Linhardt R, Mohammadi M. Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. Hum Mol Genet. 2004;13:2313-24 pubmed
    Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS)...
  64. Wilkie A. Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev. 2005;16:187-203 pubmed
    ..with FGFR1 and FGFR3 mutations; identification of fundamental differences in the cellular mechanisms of mutant FGFR2 and FGFR3 action; and the direct identification of FGFR2 and FGFR3 mutations in sperm...
  65. Wang T, Huang C, Tsai F, Wu J, Lai R, Hsiao M. Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin Genet. 2002;61:218-21 pubmed
    ..Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA...
  66. Plotnikov A, Hubbard S, Schlessinger J, Mohammadi M. Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity. Cell. 2000;101:413-24 pubmed
    ..with the ligand binding domains (immunoglobulin-like domains 2 [D2] and 3 [D3]) of FGF receptor 1 (FGFR1) and FGFR2, respectively...
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    ..029). In conclusion, the co-expression of K-sam and KGF in gastric cancer might be a useful prognostic factor. ..
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    ..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...
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    The keratinocyte growth factor receptor (KGFR)/fibroblast growth factor receptor 2b is activated by high-affinity-specific interaction with two different ligands, keratinocyte growth factor (KGF)/fibroblast growth factor (FGF)7 and FGF10/..
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    ..Single nucleotide polymorphisms (SNP) in the fibroblast growth factor receptor 2 (FGFR2) gene are substantially associated with postmenopausal breast cancer risk and could ..
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    Gene amplification and protein overexpression of fibroblast growth factor receptor 2 (FGFR2) characterize the SUM-52 breast cancer cell line developed in our laboratory...
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    ..SNP rs1982073 (Leu10Pro) in transforming growth factor-beta 1 (TGFB1) gene and the SNP rs1219648 in fibroblast growth factor receptor 2 (FGFR2) gene with the risk and aggressiveness of breast cancer among women of Han nationality in ..
  78. Cha J, Maddileti S, Mitin N, Harden T, Der C. Aberrant receptor internalization and enhanced FRS2-dependent signaling contribute to the transforming activity of the fibroblast growth factor receptor 2 IIIb C3 isoform. J Biol Chem. 2009;284:6227-40 pubmed publisher
    Alternative splice variants of fibroblast growth factor receptor 2 (FGFR2) IIIb, designated C1, C2, and C3, possess progressive reduction in their cytoplasmic carboxyl termini (822, 788, and 769 residues, respectively), with preferential ..
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    ..13, approximately 300 kb telomeric to the established risk locus within the second intron of FGFR2, was also associated with breast cancer risk, although not at genome-wide statistical significance (rs10510102: OR ..
  80. Merrill A, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada K, et al. Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet. 2012;90:550-7 pubmed publisher
    b>Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development...
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    ..Four of these contain plausible causative genes (FGFR2, TNRC9, MAP3K1 and LSP1). At the second stage, 1,792 SNPs were significant at the P < 0...
  82. Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth H, et al. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. Am J Med Genet A. 2010;152A:2067-73 pubmed publisher
    ..disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit ..
  83. Sun S, Jiang Y, Zhang G, Song H, Zhang X, Zhang Y, et al. Increased expression of fibroblastic growth factor receptor 2 is correlated with poor prognosis in patients with breast cancer. J Surg Oncol. 2012;105:773-9 pubmed publisher
    Although there is growing evidence supporting the hypothesis that fibroblast growth factor receptor 2 (FGFR2) is one of the few candidate genes linked with breast cancer susceptibility, the precise role of FGFR2 protein expression in ..
  84. Cha J, Lambert Q, Reuther G, Der C. Involvement of fibroblast growth factor receptor 2 isoform switching in mammary oncogenesis. Mol Cancer Res. 2008;6:435-45 pubmed publisher
    We identified the IIIb C2 epithelial cell-specific splice variant of fibroblast growth factor receptor 2 (FGFR2 IIIb C2) receptor tyrosine kinase in a screen for activated oncogenes expressed in T-47D human breast carcinoma cells...
  85. Thomas G, Jacobs K, Kraft P, Yeager M, Wacholder S, Cox D, et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009;41:579-84 pubmed publisher
    ..1 (rs999737; P = 1.74 x 10(-7)) localizes to RAD51L1, a gene in the homologous recombination DNA repair pathway. We also confirmed associations with loci on chromosomes 2q35, 5p12, 5q11.2, 8q24, 10q26 and 16q12.1. ..
  86. Katoh M. Cancer genomics and genetics of FGFR2 (Review). Int J Oncol. 2008;33:233-7 pubmed
    b>FGFR2 gene encodes FGFR2b in epithelial cells, and FGFR2c in mesenchymal cells. FGFR2b is a high affinity receptor for FGF1, FGF3, FGF7, FGF10 and FGF22, while FGFR2c for FGF1, FGF2, FGF4, FGF6, FGF9, FGF16 and FGF20...