Novel mutations and expression alterations in SMAD3/TGFBR2 genes in oral carcinoma correlate with poor prognosis

Genes Chromosomes and Cancer

Volumn 52, Issue 11, 2013, Pages 1042-1052

  Sivadas, Vadakke Peringode ^a   George, Nebu Abraham ^a   Kattoor, Jayasree ^a   Kannan, S ^a  

^a REGIONAL CANCER CENTRE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER PROGNOSIS; CONFORMATION; CORRELATION ANALYSIS; DISEASE FREE SURVIVAL; GENE; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; MOUTH SQUAMOUS CELL CARCINOMA; NUCLEOTIDE SEQUENCE; OVERALL SURVIVAL; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; SMAD3 GENE; TGFBR2 GENE;

EID: 84884704517     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22099     Document Type: Article

References (45)

1. Arai T, Akiyama Y, Okabe S, Ando M, Endo M, Yuasa Y. 1998. Genomic structure of the human SMAD3 gene and its infrequent alterations in colorectal cancers. Cancer Lett 122:157-163.
2. Bagan J, Sarrion G, Jimenez Y. 2010. Oral cancer: Clinical features. Oral Oncol 46:414-417.
3. Bartel DP. 2009. MicroRNAs: Target recognition and regulatory functions. Cell 136:215-233.
4. Bierie B, Moses HL. 2006. Tumour microenvironment: TGFbeta: The molecular Jekyll and Hyde of cancer. Nat Rev Cancer 6:506-520.
5. Boulay JL, Mild G, Lowy A, Reuter J, Lagrange M, Terracciano L, Laffer U, Herrmann R, Rochlitz C. 2003. SMAD7 is a prognostic marker in patients with colorectal cancer. Int J Cancer 104:446-449.
6. Boyle P, Levin B. 2008. World Cancer Report. Lyon, France: IARC Scientific Publications.
7. Brundage MD, Davies D, Mackillop WJ. 2002. Prognostic factors in non-small cell lung cancer: A decade of progress. Chest 122:1037-1057.
8. Campisi G, Panzarella V, Giuliani M, Lajolo C, Di Fede O, Falaschini S, Di Liberto C, Scully C, Lo Muzio L. 2007. Human papillomavirus: Its identity and controversial role in oral oncogenesis, premalignant and malignant lesions. Int J Oncol 30:813-823.
9. Curado MP, Edwards B, Shin HR, Storm H, Ferlay J, Heanue M, Boyle P. 2009. Cancer Incidence in Five Continents, Vol. IX. Lyon, France: IARC Scientific Publications, p 160.
10. Derynck R, Akhurst RJ, Balmain A. 2001. TGF-beta signaling in tumor suppression and cancer progression. Nat Genet 29:117-129.
11. Dietz A, Wichmann G. 2011. Translational research in head and neck cancer: Biological characteristics and general aspects. HNO 59:874-884.
12. Eppert K, Scherer SW, Ozcelik H, Pirone R, Hoodless P, Kim H, Tsui LC, Bapat B, Gallinger S, Andrulis IL, Thomsen GH, Wrana JL, Attisano L. 1996. MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell 86:543-552.
13. Feng XH, Derynck R. 2005. Specificity and versatility in tgf-beta signaling through Smads. Annu Rev Cell Dev Biol 21:659-693.
14. Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. 2008. GLOBOCAN 2008 v2.0, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 10. Lyon, France.
15. Francis G, Dileep Kumar U, Nalinakumari KR, Jayasree K, Kannan S. 2013. Accumulation of inactive p53 protein in oral squamous cell carcinoma: Stabilization by protein interaction. Eur J Oral Sci 121:21-28.
16. Friedl W, Kruse R, Uhlhaas S, Stolte M, Schartmann B, Keller KM, Jungck M, Stern M, Loff S, Back W, Propping P, Jenne DE. 1999. Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients. Genes Chromosomes Cancer 25:403-406.
17. Heikkinen PT, Nummela M, Jokilehto T, Grenman R, Kähäri VM, Jaakkola PM. 2010. Hypoxic conversion of SMAD7 function from an inhibitor into a promoter of cell invasion. Cancer Res 70:5984-5993.
18. Herrero R, Castellsagué X, Pawlita M, Lissowska J, Kee F, Balaram P, Rajkumar T, Sridhar H, Rose B, Pintos J, Fernández L, Idris A, Sánchez MJ, Nieto A, Talamini R, Tavani A, Bosch FX, Reidel U, Snijders PJ, Meijer CJ, Viscidi R, Muñoz N, Franceschi S; IARC Multicenter Oral Cancer Study Group. 2003. Human papillomavirus and oral cancer: The International Agency for Research on Cancer multicenter study. J Natl Cancer Inst 95:1772-1783.
19. Liu X, Lee J, Cooley M, Bhogte E, Hartley S, Glick A. 2003. Smad7 but not Smad6 cooperates with oncogenic ras to cause malignant conversion in a mouse model for squamous cell carcinoma. Cancer Res 63:7760-7768.
20. Lonn P, Moren A, Raja E, Dahl M, Moustakas A. 2009. Regulating the stability of TGFbeta receptors and Smads. Cell Res 19:21-35.
21. Lücke CD, Philpott A, Metcalfe JC, Thompson AM, Hughes-Davies L, Kemp PR, Hesketh R. 2001. Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer. Cancer Res 61:482-485.
22. Lundberg M, Leivo I, Saarilahti K, Mäkitie AA, Mattila PS. 2012. Transforming growth factor beta 1 genotype and p16 as prognostic factors in head and neck squamous cell carcinoma. Acta Otolaryngol 132:1006-1012.
23. Maréchal R, Van Laethem JL. 2013. Towards a tailored therapy in pancreatic cancer. Acta Gastroenterol Belg 76:49-56.
24. Markopoulos AK. 2012. Current aspects on oral squamous cell carcinoma. Open Dent J 6:126-130.
25. Massague J. 2008. TGFbeta in cancer. Cell 134:215-230.
26. Massague J, Seoane J, Wotton D. 2005. Smad transcription factors. Genes Dev 19:2783-2810.
27. Miller CS, Johnstone BM. 2001. Human papillomavirus as a risk factor for oral squamous cell carcinoma: A meta-analysis, 1982-1997. Oral Surg Oral Med Oral Pathol Oral Radiol Endodontol 91:622-635.
28. Miyaki M, Iijima T, Konishi M, Sakai K, Ishii A, Yasuno M, Hishima T, Koike M, Shitara N, Iwama T, Utsunomiya J, Kuroki T, Mori T. 1999. Higher frequency of Smad4 gene mutation in human colorectal cancer with distant metastasis. Oncogene 20:3098-3103.
29. Padua D, Massague J. 2009. Roles of TGFbeta in metastasis. Cell Res 19:89-102.
30. Parkin DM, Bray F, Ferlay J, Pisani P. Global cancer statistics-2002. 2005. Cancer J Clin 55:74-108.
31. Pfaffl MW. 2001. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29:e45.
32. Roth S, Johansson M, Loukola A, Peltomäki P, Järvinen H, Mecklin JP, Aaltonen LA. 2000. Mutation analysis of smad2, smad3, and smad4 genes in hereditary non-polyposis colorectal cancer. J Med Genet 37:298-300.
33. Seoane J. 2006. Escaping from the TGFbeta anti-proliferative control. Carcinogenesis 27:2148-2156.
34. Shah NG, Trivedi TI, Tankshali RA, Goswami JV, Jetly DH, Shukla SN, Shah PM, Verma RJ. 2009. Prognostic significance of molecular markers in oral squamous cell carcinoma: A multivariate analysis. Head Neck 31:1544-1556.
35. Sjöblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE. 2006. The consensus coding sequences of human breast and colorectal cancers. Science 314:268-274.
36. Taylor GR. 1997. Laboratory Methods for the Detection of Mutations and Polymorphisms in DNA. 1st ed. New York: CRC Press Inc.
37. Thiagalingam S, Lengauer C, Leach FS, Schutte M, Hahn SA, Overhauser J, Willson JK, Markowitz S, Hamilton SR, Kern SE, Kinzler KW, Vogelstein B. 1996. Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers. Nat Genet 13:343-346.
38. Trivedi TI, Tankshali RA, Goswami JV, Shukla SN, Shah PM, Shah NG. 2011. Identification of site-specific prognostic biomarkers in patients with oral squamous cell carcinoma. Neoplasma 58:217-226.
39. van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. 2011. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet 43:121-126.
40. van't Veer LJ, Dai H, van de Vijver MJ, He YD, Hart AA, Mao M, Peterse HL, van der Kooy K, Marton MJ, Witteveen AT, Schreiber GJ, Kerkhoven RM, Roberts C, Linsley PS, Bernards R, Friend SH. 2002. Gene expression profiling predicts clinical outcome of breast cancer. Nature 415:530-536.
41. Wang D, Song H, Evans JA, Lang JC, Schuller DE, Weghorst CM. 1997. Mutation and downregulation of the transforming growth factor beta type II receptor gene in primary squamous cell carcinomas of the head and neck. Carcinogenesis 18:2285-2290.
42. Warnakulasuriya S. 2009. Global epidemiology of oral and oropharyngeal cancer. Oral Oncol 45:309-316.
43. Xu L. 2006. Regulation of Smad activities. Biochim Biophys Acta 1759:503-513.
44. Yang X, Letterio JJ, Lechleider RJ, Chen L, Hayman R, Gu H, Roberts AB, Deng C. 1999. Targeted disruption of SMAD3 results in impaired mucosal immunity and diminished T cell responsiveness to TGF-beta. EMBO J 18:1280-1291.
45. Zhu Y, Richardson JA, Parda LF, Graff JM. 1998. SMAD3 mutant mice develop metastatic colorectal cancer. Cell 94:703-714.