An epitome of DNA repair related genes and mechanisms in thyroid carcinoma

Cancer Letters

Volumn 290, Issue 2, 2010, Pages 139-147

  Gatzidou, Elisavet ^a   Michailidi, Christina ^a   Tseleni Balafouta, Sophia ^a   Theocharis, Stamatios ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Cancer predisposition; DNA repair systems; Gene polymorphisms; Thyroid cancer

Indexed keywords

DNA; DNA METHYLTRANSFERASE; PROTEIN MLH1; PROTEIN P53; RAD52 PROTEIN; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XRCC3 PROTEIN;

CARCINOGENESIS; CELL DEATH; DNA POLYMORPHISM; DNA REPAIR; DNA REPLICATION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC VARIABILITY; GENOMIC INSTABILITY; HUMAN; MISMATCH REPAIR; NONHUMAN; PRIORITY JOURNAL; SHORT SURVEY; THYROID CANCER; THYROID CARCINOMA;

EID: 77649192117     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.canlet.2009.08.007     Document Type: Review

References (95)

1. Leenhardt L., Grosclaude P., and Cherie-Challine L. Increased incidence of thyroid carcinoma in France: a true epidemic or thyroid nodule management effects? Report from the French Thyroid Cancer Committee. Thyroid 14 (2004) 1056-1060
2. Jemal A., Siegel R., Ward E., Hao Y., Xu J., Murray T., and Thun M.J. Cancer statistics, 2008. CA Cancer J. Clin. 58 (2008) 71-96
3. Davies L., and Welch H.G. Increasing incidence of thyroid cancer in the United States, 1973-2002. JAMA 295 (2006) 2164-2167
4. Hundahl S.A., Fleming I.D., Fremgen A.M., and Menck H.R. A national cancer data base report on 53,856 cases of thyroid carcinoma treated in the US, 1985-1995. Cancer 83 (1998) 2638-2648
5. Sturgis E.M., Zhao C., Zheng R., and Wei Q. Radiation response genotype and risk of differentiated thyroid cancer: a case-control analysis. Laryngoscope 115 (2005) 938-945
6. Little J.B. Radiation carcinogenesis. Carcinogenesis 21 (2000) 397-404
7. Friedberg E.C., McDaniel L.D., and Schultz R.A. The role of endogenous and exogenous DNA damage and mutagenesis. Curr. Opin. Genet. Dev. 14 (2004) 5-10
8. Hoeijmakers J.H. Genome maintenance mechanisms for preventing cancer. Nature 411 (2001) 366-374
9. Pecorino L. Molecular Biology of Cancer: Mechanisms, Targets, and Therapeutics. first ed. (2005), Oxford University Press, New York
10. Giaginis C., Gatzidou E., and Theocharis S. DNA repair systems as targets of cadmium toxicity. Toxicol. Appl. Pharmacol. 213 (2006) 282-290
11. Lindahl T. Suppression of spontaneous mutagenesis in human cells by DNA base excision-repair. Mutat. Res. 462 (2000) 129-135
12. Nilsen H., and Krokan H.E. Base excision repair in a network of defence and tolerance. Carcinogenesis 22 (2001) 987-998
13. Krokan H.E., Nilsen H., Skorpen F., Otterlei M., and Slupphaug G. Base excision repair of DNA in mammalian cells. FEBS Lett. 476 (2000) 73-77
14. Memisoglu A., and Samson L. Base excision repair in yeast and mammals. Mutat. Res. 451 (2000) 39-51
15. Frosina G., Fortini P., Rossi O., Carrozzino F., Raspaglio G., Cox L.S., Lane D.P., Abbondandolo A., and Dogliotti E. Two pathways for base excision repair pathways in mammalian cells. J. Biol. Chem. 271 (1996) 9573-9578
16. Friedberg E.C. How nucleotide excision repair protects against cancer. Nat. Rev. Cancer 1 (2001) 22-33
17. Peterson C.L., and Côté J. Cellular machineries for chromosomal DNA repair. Genes Dev. 18 (2004) 602-616
18. Pâques F., and Haber J.E. Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae. Microbiol. Mol. Biol. Rev. 63 (1999) 349-404
19. Jackson S.P. Sensing and repairing DNA double-strand breaks. Carcinogenesis 23 (2002) 687-696
20. Thompson L.H., and Schild D. Recombinational DNA repair and human disease. Mutat. Res. 509 (2002) 49-78
21. Collis S.J., DeWeese T.L., Jeggo P.A., and Parker A.R. The life and death of DNA-PK. Oncogene 24 (2005) 949-961
22. Evans E., and Alani E. Roles for mismatch repair factors in regulating genetic recombination. Mol. Cell Biol. 20 (2000) 7839-7844
23. Kolodner R.D., and Marsischky G.T. Eukaryotic DNA mismatch repair. Curr. Opin. Genet. Dev. 9 (1999) 89-96
24. Ray B.L., White C.I., and Haber J.E. Heteroduplex formation and mismatch repair of the "stuck" mutation during mating-type switching in Saccharomyces cerevisiae. Mol. Cell Biol. 11 (1991) 3380-5372
25. Buermeyer A.B., Deschênes S.M., Baker S.M., and Liskay R.M. Mammalian DNA mismatch repair. Annu. Rev. Genet. 33 (1999) 533-564
26. Marti T.M., Kunz C., and Fleck O. DNA mismatch repair and mutation avoidance pathways. J. Cell. Physiol. 191 (2002) 28-41
27. Harfe B.D., and Jinks-Robertson S. DNA mismatch repair and genetic instability. Annu. Rev. Genet. 34 (2000) 359-399
28. Hsieh P. Molecular mechanisms of DNA mismatch repair. Mutat. Res. 486 (2001) 71-87
29. Acharya S., Wilson T., Gradia S., Kane M.F., Guerrette S., Marsischky G.T., Kolodner R., and Fishel R. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc. Natl. Acad. Sci. USA 93 (1996) 13629-13634
30. McCulloch S.D., Gu L., and Li G.M. Bi-directional processing of DNA loops by mismatch repair-dependent and-independent pathways in human cells. J. Biol. Chem. 278 (2003) 3891-3896
31. Wilson T., Guerrette S., and Fishel R. Dissociation of mismatch recognition and ATPase activity by hMSH2-hMSH3. J. Biol. Chem. 274 (1999) 21659-21664
32. Ban C., Junop M., and Yang W. Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair. Cell 97 (1999) 85-97
33. Caldecott K.W., Tucker J.D., Stanker L.H., and Thompson L.H. Characterization of XRCC1-DNA ligase III complex in vitro and its absence from mutant hamster cells. Nucleic Acids Res. 23 (1995) 4836-4843
34. Thompson L.H., and West M.G. XRCC1 keeps DNA from getting stranded. Mutat. Res. 459 (2000) 1-18
35. Ho T., Li G., Lu J., Zhao C., Wei Q., and Sturgis E.M. Association of XRCC1 polymorphisms and risk of differentiated thyroid carcinoma: a case-control analysis. Thyroid 19 (2009) 129-135
36. Chiang F.Y., Wu C.W., Hsiao P.J., Kuo W.R., Lee K.W., Lin J.C., Liao Y.C., and Juo S.H. Association between polymorphisms in DNA base excision repair genes XRCC1, APE1, and ADPRT and differentiated thyroid carcinoma. Clin. Cancer Res. 14 (2008) 5919-5924
37. Mertens A.C., Mitby P.A., Radloff G., Jones I.M., Perentesis J., Kiffmeyer W.R., Neglia J.P., Meadows A., Potter J.D., Friedman P., Yasui Y., Robison L.L., and Davies S.M. XRCC1 and glutathionine-S-transferase gene polymorphisms and susceptibility to radiotherapy-related malignancies in survivors of Hodgkin disease: a report from the Childhood Cancer Survivor study. Cancer 101 (2004) 1463-1472
38. Evans A.R., Limp-Foster M., and Kelley M.R. Going APE over ref-1. Mutat. Res. 461 (2000) 83-108
39. Chiarini L.B., Freitas F.G., Petrs-Silva H., and Linden R. Evidence that the bifunctional redox factor/AP endonuclease Ref-1 is an anti-apoptotic protein associated with differentiation in the developing retina. Cell Death Differ. 7 (2000) 272-281
40. Russo D., Celano M., Bulotta S., Bruno R., Arturi F., Giannasio P., Filetti S., Damante G., and Tell G. APE/Ref-1 is increased in nuclear fractions of human thyroid hyperfunctioning nodules. Mol. Cell. Endocrinol. 194 (2002) 71-76
41. Tell G., Crivellato E., Pines A., Paron I., Pucillo C., Manzini G., Bandiera A., Kelley M.R., DiLoreto C., and Damante G. Mitochondrial localization of APE/Ref-1 in thyroid cells. Mutat. Res. 485 (2001) 143-152
42. Ronen A., and Glickman B.W. Human DNA repair genes. Environ. Mol. Mutagen. 37 (2001) 241-283
43. Lehmann A.R. The xenoderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev. 15 (2001) 15-23
44. Silva S.N., Gil O.M., Oliveira V.C., Cabral M.N., Azevedo A.P., Faber A., Manita I., Ferreira T.C., Limbert E., Pina J.E., Rueff J., and Gaspar J. Association of polymorphisms in ERCC2 gene with non-familial thyroid cancer risk. Cancer Epidemiol. Biomarkers Prev. 14 (2005) 2407-2412
45. Guan H., Ji M., Hou P., Liu Z., Wang C., Shan Z., Teng W., and Xing M. Hypermethylation of the DNA mismatch repair gene hMLH1 and its association with lymph node metastasis and T 1799A BRAF mutation in patients with papillary thyroid cancer. Cancer 113 (2008) 247-255
46. Ruschenburg I., Vollheim B., Stachura J., Cordon-Cardo C., and Korabiowska M. Analysis of DNA mismatch repair gene expression and mutations in thyroid tumours. Anticancer Res. 26 (2006) 2107-2112
47. Schofield M.J., and Hsieh P. DNA mismatch repair: molecular mechanisms and biological function. Annu. Rev. Microbiol. 57 (2003) 579-608
48. Ionov Y., Peinado M.A., Malkhosyan S., Shibata D., and Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363 (1993) 558-561
49. Weber J.L., and May P.E. Abundant class of DNA polymorphism which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44 (1989) 388-396
50. Wheeler J.M., Bodmer W.F., and Mortensen N.J. DNA mismatch repair genes and colorectal cancer. Gut 47 (2000) 148-153
51. Parsons R., Li G.M., Longley M.J., Fang W.H., Papadopoulos N., Jen J., de la Chapelle A., Kinzler K.W., Vogelstein B., and Modrich P. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75 (1993) 1227-1236
52. Shibata D., Peinado M.A., Ionov Y., Malkhosyan S., and Perucho M. Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nat. Genet. 6 (1994) 273-281
53. Farid N.R., Shi Y., and Zou M. Molecular basis of thyroid cancer. Endocr. Rev. 15 (1994) 202-232
54. Frayling I.M. Microsatellite instability. Gut 45 (1999) 1-4
55. Vermiglio F., Schlumberger M., Lazar V., Lefreré I., and Bressac B. Absence of microsatellite instability in thyroid carcinomas. Eur. J. Cancer 31A (1995) 128
56. Soares P., dos Santos N.R., Seruca R., Lothe R.A., and Sobrinho-Simões M. Benign and malignant thyroid lesions show instability at microsatellite loci. Eur. J. Cancer 33 (1997) 293-296
57. Vaish M., Mishra S.K., Mandhani A., Mittal R.D., and Mittal B. Assessment of microsatellite instability in bladder and thyroid malignancies. Teratog. Carcinog. Mutagen. Suppl. 1 (2003) 255-265
58. Vaish M., Mishra A., Kaushal M., Mishra S.K., and Mittal B. Microsatellite instability and its correlation with clinicopathological features in a series of thyroid tumors prevalent in iodine deficient areas. Exp. Mol. Med. 36 (2004) 122-129
59. Tebbs R.S., Zhao Y., Tucker J.D., Scheerer J.B., Siciliano M.J., Hwang M., Liu N., Legerski R.J., and Thompson L.H. Correction of chromosomal instability and sensitivity to diverse mutagens by a cloned cDNA of the XRCC3 DNA repair gene. Proc. Natl. Acad. Sci. USA 92 (1995) 6354-6358
60. Liu N., Lamerdin J.E., Tebbs R.S., Schild D., Tucker J.D., Shen M.R., Brookman K.W., Siciliano M.J., Walter C.A., Fan W., Narayana L.S., Zhou Z.Q., Adamson A.W., Sorensen K.J., Chen D.J., Jones N.J., and Thompson L.H. XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages. Mol. Cell. 1 (1998) 783-793
61. Masson J.Y., Stasiak A.Z., Stasiak A., Benson F.E., and West S.C. Complex formation by the human RAD51C and XRCC3 recombination repair proteins. Proc. Natl. Acad. Sci. USA 98 (2001) 8440-8446
62. Shen M.R., Jones I.M., and Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res. 58 (1998) 604-608
63. Fleck O., and Nielsen O. DNA repair. J. Cell Sci. 117 (2004) 515-517
64. Siraj A.K., Al-Rasheed M., Ibrahim M., Siddqui K., Al-Dayel F., Al-Sanea O., Uddin S., and Al-Kuraya K. RAD52 polymorphisms contribute to the development of papillary thyroid cancer susceptibility in Middle Eastern population. J. Endocrinol. Invest. 31 (2008) 893-899
65. Bell S., Klein C., Müller L., Hansen S., and Buchner J. p53 contains large unstructured regions in its native state. J. Mol. Biol. 322 (2002) 917-927
66. Farid N.R. p53 mutations in thyroid carcinoma: tidings from an old foe. J. Endocrinol. Invest. 24 (2001) 536-545
67. McCabe C.J., and Gittoes N.J. PTTG - a new pituitary tumour transforming gene. J. Endocrinol. 162 (1999) 163-166
68. Tfelt-Hansen J., Kanuparthi D., and Chattopadhyay N. The emerging role of pituitary tumor transforming gene in tumorigenesis. Clin. Med. Res. 4 (2006) 130-137
69. Heaney A.P., Nelson V., Fernando M., and Horwitz G. Transforming events in thyroid tumorigenesis and their association with follicular lesions. J. Clin. Endocrinol. Metab. 86 (2001) 5025-5032
70. Boelaert K., McCabe C.J., Tannahill L.A., Gittoes N.J., Holder R.L., Watkinson J.C., Bradwell A.R., Sheppard M.C., and Franklyn J.A. Pituitary tumor transforming gene and fibroblast growth factor-2 expression: potential prognostic indicators in differentiated thyroid cancer. J. Clin. Endocrinol. Metab. 88 (2003) 2341-2347
71. Kim D., Pemberton H., Stratford A.L., Buelaert K., Watkinson J.C., Lopes V., Franklyn J.A., and McCabe C.J. Pituitary tumour transforming gene (PTTG) induces genetic instability in thyroid cells. Oncogene 24 (2005) 4861-4866
72. Kim D.S., Franklyn J.A., Boelaert K., Eggo M.C., Watkinson J.C., and McCabe C.J. Pituitary tumor transforming gene (PTTG) stimulates thyroid cell proliferation via a vascular endothelial growth factor/kinase insert domain receptor/inhibitor of DNA binding-3 autocrine pathway. J. Clin Endocrinol. Metab. 91 (2006) 4603-4611
73. Stratford A.L., Boelaert K., Tannahill L.A., Kim D.S., Warfield A., Eggo M.C., Gittoes N.J., Young L.S., Franklyn J.A., and McCabe C.J. Pituitary tumor transforming gene binding factor: a novel transforming gene in thyroid tumorigenesis. J. Clin. Endocrinol. Metab. 90 (2005) 4341-4349
74. Sáez C., Martínez-Brocca M.A., Castilla C., Soto A., Navarro E., Tortolero M., Pintor-Toro J.A., and Japón M.A. Prognostic significance of human pituitary tumor-transforming gene immunohistochemical expression in differentiated thyroid cancer. J. Clin. Endocrinol. Metab. 91 (2006) 1404-1409
75. Salehi F., Kovacs K., Scheithauer B.W., Lloyd R.V., and Cusimano M. Pituitary tumor-transforming gene in endocrine and other neoplasms: a review and update. Endocr. Relat. Cancer 15 (2008) 721-743
76. Romero F., Multon M.C., Ramos-Morales F., Domínguez A., Bernal J.A., Pintor-Toro J.A., and Tortolero M. Human securin, hPTTG, is associated with Ku heterodimer, the regulatory subunit of the DNA-dependent protein kinase. Nucleic Acids Res. 29 (2001) 1300-1307
77. Kim C.S., Ying H., Willingham M.C., and Cheng S.Y. The pituitary tumor-transforming gene promotes angiogenesis in a mouse model of follicular thyroid cancer. Carcinogenesis 28 (2007) 932-939
78. Rubinek T., Chesnokova V., Wolf I., Wawrowsky K., Vlotides G., and Melmed S. Discordant proliferation and differentiation in pituitary tumor-transforming gene-null bone marrow stem cells. Am. J. Physiol. Cell Physiol. 293 (2007) C1082-C1092
79. Chesnokova V., Zonis S., Rubinek T., Yu R., Ben-Shlomo A., Kovacs K., Wawrowsky K., and Melmed S. Senescence mediates pituitary hypoplasia and restrains pituitary tumor growth. Cancer Res. 67 (2007) 10564-10572
80. Santoro M., Dathan N.A., Berlingieri M.T., Bongarzone I., Paulin C., Grieco M., Pierotti M.A., Vecchio G., and Fusco A. Molecular characterization of RET/PTC3; a novel rearranged version of the RET proto-oncogene in a human thyroid papillary carcinoma. Oncogene 9 (1994) 509-516
81. Minoletti F., Butti M.G., Coronelli S., Miozzo M., Sozzi G., Pilotti S., Tunnacliffe A., Pierotti M.A., and Bongarzone I. The two genes generating RET/PTC3 are localized in chromosomal band 10q11.2. Genes Chromosomes Cancer 11 (1994) 51-57
82. Nikiforov Y.E., Koshoffer A., Nikiforova M., Stringer J., and Fagin J.A. Chromosomal breakpoint positions suggest a direct role for radiation in inducing illegimate recombination between the ELE1 and RET genes in radiation-induced thyroid carcinomas. Oncogene 18 (1999) 6330-6334
83. Bongarzone I., Butti M.G., Fugazzola L., Pacini F., Pinchera A., Vorontsova T.V., Demidchik E.P., and Pierotti M.A. Comparison of the breakpoint regions of ELE1 and RET genes involved in the generation of RET/PTC3 oncogene in sporadic and in radiation-associated papillary thyroid carcinomas. Genomics 42 (1997) 252-259
84. Klugbauer S., Pfeiffer P., Gassenhuber H., Beimfohr C., and Rabes H.M. RET rearrangements in radiation-induced papillary thyroid carcinomas: high prevalence of topoisomerase I sites at breakpoints and microhomology-mediated end joining in ELE1 and RET chimeric genes. Genomics 73 (2001) 149-160
85. Povirk L.F. Biochemical mechanisms of chromosomal translocations resulting from DNA double-strand breaks. DNA Repair 5 (2006) 1199-1212
86. Klugbauer S., Lengfelder E., Demidchik E.P., and Rabes HM. High prevalence of RET rearrangement in thyroid tumors of children from Belarus after the Chernobyl reactor accident. Oncogene 11 (1995) 2459-2467
87. Fugazzola L., Pilotti S., Pinchera A., Vorontsova T.V., Mondellini P., Bongarzone I., Greco A., Astakhova L., Butti M.G., Demidchik E.P., Pacini F., and Pierotti M.A. Oncogenic rearrangements of the RET proto-oncogene in papillary thyroid carcinomas from children exposed to the Chernobyl nuclear accident. Cancer Res. 55 (1995) 5617-5620
88. Nikiforov Y.E., Rowland J.M., Bove K.E., Monforte-Munoz H., and Fagin J.A. Distinct pattern of ret oncogene rearrangements in morphological variants of radiation-induced and sporadic thyroid papillary carcinomas in children. Cancer Res. 57 (1997) 1690-1694
89. Smida J., Salassidis K., Hieber L., Zitzelsberger H., Kellerer A.M., Demidchik E.P., Negele T., Spelsberg F., Lengfelder E., Werner M., and Bauchinger M. Distinct frequency of ret rearrangements in papillary thyroid carcinomas of children and adults from Belarus. Int. J. Cancer 80 (1999) 32-38
90. Rabes H.M., and Klugbauer S. Molecular genetics of childhood papillary thyroid carcinomas after irradiation: high prevalence of RET rearrangement. Recent Results Cancer Res. 154 (1998) 248-264
91. Pierotti M.A., Santoro M., Jenkins R.B., Sozzi G., Bongarzone I., Grieco M., Monzini N., Miozzo M., Herrmann M.A., Fusco A., Hay I.D., Della Porta G., and Vecchio G. Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC. Proc. Natl. Acad. Sci. USA 89 (1992) 1616-1620
92. Rabes H.M. Gene rearrangements in radiation-induced thyroid carcinogenesis. Med. Pediatr. Oncol. 36 (2001) 574-582
93. Sozzi G., Bongarzone I., Miozzo M., Borrello M.G., Butti M.G., Pilotti S., Della Porta G., and Pierotti M.A. A t(10;17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma. Gene Chromosomes Cancer 9 (1994) 244-250
94. Nikiforov Y.E. RET/PTC rearrangement in thyroid tumors. Endocr. Pathol. 13 (2002) 3-16
95. Elisei R., Cosci B., Romei C., Agate L., Piampiani P., Miccoli P., Berti P., Basolo F., Ugolini C., Ciampi R., Nikiforov Y., and Pinchera A. Identification of a novel point mutation in the RET gene (Ala833Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition. J. Clin. Endocrinol. Metab. 89 (2004) 5823-5827