Studies of genes involved in craniofacial development and tumorigenesis: FGF3 contributes to isolated oral clefts and may interact with PAX9

References

• Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet 2009;374:1773–85.
   PubMed Web of Science ®Google Scholar
• Windham GC, Bjerkedal T, Langmark F. A population-based study of cancer incidence in twins and in children with congenital malformations or low birth weight, Norway, 1967–1980. Am J Epidemiol 1985;121:49–56.
   PubMed Web of Science ®Google Scholar
• Mili F, Lynch CF, Khoury MJ, Flanders WD, Edmonds LD. Risk of childhood cancer for infants with birth defects. II. A record-linkage study, Iowa, 1983–1989. Am J Epidemiol 1993a;137:639–44.
   PubMed Web of Science ®Google Scholar
• Mili F, Khoury MJ, Flanders WD, Greenberg RS. Risk of childhood cancer for infants with birth defects. I. A record-linkage study, Atlanta, Georgia, 1968-1988. Am J Epidemiol 1993b;137:629–38.
   PubMed Web of Science ®Google Scholar
• Narod SA, Hawkins MM, Robertson CM, Stiller CA. Congenital anomalies and childhood cancer in Great Britain. Am J Hum Genet 1997;60:474–85.
   PubMed Web of Science ®Google Scholar
• Nishi M, Miyake H, Takeda T, Hatae Y. Congenital malformations and childhood cancer. Med Pediatr Oncol 2000;34:250–4.
   PubMedGoogle Scholar
• Bille C, Winther JF, Bautz A, Murray JC, Olsen J, Christensen K. Cancer risk in persons with oral cleft--a population-based study of 8,093 cases. Am J Epidemiol 2005;161:1047–55.
   PubMed Web of Science ®Google Scholar
• Zhu JL, Basso O, Hasle H, Winther JF, Olsen JH, Olsen J. Do parents of children with congenital malformations have a higher cancer risk? A nationwide study in Denmark. Br J Cancer 2000;87:524–8.
   Google Scholar
• Menezes R, Marazita ML, Goldstein McHenry T, Cooper ME, Bardi K, et al. AXIS inhibition protein2, orofacial clefts and a family history of cancer. J Am Dent Assoc 2009;140:80–4.
   PubMed Web of Science ®Google Scholar
• Vieira AR, Khaliq S, Lace B. Risk of cancer in relatives of children born with isolated cleft lip and palate. Am J Med Genet Part A 2012;158:1503–4.
   Google Scholar
• Yildirim M, Seymen F, Deeley K, Cooper ME, Vieira AR. Defining predictors of cleft lip and palate risk. J Dent Res 2012;91:556–61.
   PubMedGoogle Scholar
• Taioli E, Ragin C, Robertson L, Linkov F, Thurman NE, Vieira AR. Cleft lip and palate in family members of cancer survivors. Cancer Invest 2010;28:958–62.
   PubMed Web of Science ®Google Scholar
• Jindal A, Vieira AR. Family history of cleft lip and palate in subjects diagnosed with leukemia. Am J Med Genet Part A 2012;158:678–9.
   Google Scholar
• Menezes R, Letra A, Kim AH, Kuchler EC, Day A, Tannure PN, et al. Studies with Wnt genes and nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol 2010;88:995–1000.
   PubMedGoogle Scholar
• Andrade-Filho PA, Letra A, Cramer A, Prasad JL, Garlet GP, Vieira AR, et al. Insights from studies with oral cleft genes suggest associations between WNT-pathway genes and risk of oral cancer. J Dent Res 2011;90:740–6.
   PubMedGoogle Scholar
• Küchler EC, Tannure PN, Falagan-Lotsch P, Lopes TS, Granjeiro JM, Amorim LM. Buccal cells DNA extraction to obtain high quality human genomic DNA suitable for polymorphism genotyping by PCR-RFLP and Real-Time PCR. J Appl Oral Sci 2012;20:467–71.
   PubMed Web of Science ®Google Scholar
• Lammi L, Arte S, Somer M, Järvinen H, Lahermo P, Thesleff I, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 2004;74:1043–50.
   PubMed Web of Science ®Google Scholar
• Letra A, Menezes R, Granjeiro JM, Vieira AR. AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. Birth Defects Res A Clin Mol Teratol 2008;85:169–73.
   Google Scholar
• Yochum GS. AXIN2: tumor suppressor, oncogene or both in colorectal cancer? J Cancer Sci Ther 2012;4:12–13.
   PubMedGoogle Scholar
• Lee SY, Jeon HM, Kim CH, Ju MK, Bae HS, Park HG, et al. Homeobox gene Dlx-2 is implicated in metabolic stress-induced necrosis. Mol Cancer 2011;10:113.
   PubMedGoogle Scholar
• Jeong J, Cesario J, Zhao Y, Burns L, Westphal H, Rubenstein JL. Cleft palate defect of Dlx1/2-/- mutant mice is caused by lack of vertical outgrowth in the posterior palate. Dev Dyn 2012;241:1757–69.
   PubMedGoogle Scholar
• Yan ZH, Bao ZS, Yan W, Liu YW, Zhang CB, Wang HJ, et al. Upregulation of DLX2 confers a poor prognosis in glioblastoma patients by inducing a proliferative phenotype. Curr Mol Med 2013;13:438–45.
   PubMed Web of Science ®Google Scholar
• Chang SH, Jobling S, Brennan K, Headon DJ. Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands. PLoS ONE 2009;26:e7591.
   Google Scholar
• Muntané J. Harnessing tumor necrosis factor receptors to enhance antitumor activities of drugs. Chem Res Toxicol 2011;17:1610–16.
   Google Scholar
• Menezes R, Letra A, Ruff J, Granjeiro JM, Vieira AR. Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomalies. Am J Med Genet A 2008;15:1614–17.
   Google Scholar
• Daniele G, Corral J, Molife LR, de Bono JS. FGF receptor inhibitors: role in cancer therapy. Curr Oncol Rep 2012;14:111–19.
   PubMedGoogle Scholar
• Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet 2005;1:e64.
   PubMedGoogle Scholar
• Matise MP, Joyner AL. Gli genes in development and cancer. Oncogene 1999;18:7852–9.
   PubMed Web of Science ®Google Scholar
• Denaxa M, Sharpe PT, Pachnis V. The LIM homeodomain transcription factors Lhx6 and Lhx7 are key regulators of mammalian dentition. Dev Biol 2009;15:324–36.
   Google Scholar
• Jung S, Jeong D, Kim J, Yi L, Koo K, Lee J, et al. Epigenetic regulation of the potential tumor suppressor gene, hLHX6.1, in human cervicalcancer. Int J Oncol 2011;38:859–69.
   PubMedGoogle Scholar
• Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, et al. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 1998;63:557–68.
   PubMed Web of Science ®Google Scholar
• Park K, Kim K, Rho SB, Choi K, Kim D, Oh SH, et al. Homeobox Msx1 interacts with p53 tumor suppressor and inhibits tumor growth by inducing apoptosis. Cancer Res 2005;65:749–57.
   PubMedGoogle Scholar
• Lee JK, Park JW, Kim YH, Baek SH. Association between PAX9 single-nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate. J Craniofac Surg 2012;23:1262–6.
   PubMedGoogle Scholar
• Muratovska A, Zhou C, He S, Goodyer P, Eccles MR. Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. Oncogene 2003;22:7989–97.
   PubMed Web of Science ®Google Scholar
• Nakatomi M, Wang XP, Key D, Lund JJ, Turbe-Doan A, Kist R, et al. Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Dev Biol 2010;15:438–49.
   Google Scholar
• Lu MF, Pressman C, Dyer R, Johnson RL, Martin JF. Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature 1999;401:276–8.
   PubMedGoogle Scholar
• Mikeska T, Bock C, Do H, Dobrovic A. DNA methylation biomarkers in cancer: progress towards clinical implementation. Expert Rev Mol Diagn 2012;12:473–87.
   PubMed Web of Science ®Google Scholar
• Steinwachs EF, Amos C, Johnston D, Mulliken J, Stal S, Hecht JT. Nonsyndromic cleft lip and palate is not associated with cancer or other birth defects. Am J Med Genet 2000;90:17–24.
   PubMed Web of Science ®Google Scholar
• Celli J, Duijf P, Hamel BCJ, Bamshad M, Kramer B, Smits AP, et al. Heterozygous germline mutations in the p53 homolg p63 are the cause of EEC syndrome. Cell 1999;99:143–53.
   PubMed Web of Science ®Google Scholar
• Herawi M, Epstein JI. Immunohistochemical antibody cocktail staining (p63/HMWCK/AMACR) of ductal adenocarcinoma and Gleason pattern 4 cribriform and noncribriform acinar adenocarcinomas of the prostrate. Am J Surg Pathol 2007;31:889–94.
   PubMed Web of Science ®Google Scholar
• Britto JA, Evans RD, Hayward RD, Jones BM. Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion. Cleft Palate Craniofac J 2002;39:332–40.
   PubMedGoogle Scholar
• Riley BM, Mansilla MA, Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, et al. Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci USA 2007;104:4512–17.
   PubMedGoogle Scholar
• Hilliard SA, Yu L, Gu S, Zhang Z, Chen YP. Regional regulation of palatal growth and patterning along the anterior-posterior axis in mice. J Anat 2005;207:655–67.
   PubMedGoogle Scholar
• Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, et al. SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. Hum Mol Genet 2007;16:2482–93.
   PubMedGoogle Scholar
• Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO. Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematúria, and cleft lip/palate. Am J Med Genet 1997;72:227–36.
   PubMedGoogle Scholar