Syndromes with genetic instability: Model diseases for (skin) cancerogenesis;Syndrome mit genetischer instabilität: Modellerkrankungen für die (haut-) kanzerogenese

JDDG - Journal of the German Society of Dermatology

Volumn 4, Issue 9, 2006, Pages 721-731

  Emmert, Steffen ^a   Leibeling, Diana ^a   Rünger, Thomas M ^b  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

DNA repair; Genetic recombination; Genetic skin diseases

Indexed keywords

DNA;

ATAXIA TELANGIECTASIA; BLOOM SYNDROME; COCKAYNE SYNDROME; COLORECTAL CANCER; DNA DAMAGE; DNA REPAIR; DNA STRAND BREAKAGE; EXCISION REPAIR; FANCONI ANEMIA; GENE MUTATION; GENOMIC INSTABILITY; HOLLIDAY JUNCTION; HOMOLOGOUS RECOMBINATION; HUMAN; IONIZING RADIATION; MISMATCH REPAIR; MOLECULAR GENETICS; MUIR TORRE SYNDROME; MUTATIONAL ANALYSIS; NIJMEGEN BREAKAGE SYNDROME; PHOTOSENSITIVITY; PROTEIN DNA BINDING; PROTEIN DNA INTERACTION; REVIEW; ROTHMUND THOMSON SYNDROME; SKIN CARCINOGENESIS; TRICHOTHIODYSTROPHY; TURCOT SYNDROME; WERNER SYNDROME; XERODERMA PIGMENTOSUM;

ANIMALS; DISEASE MODELS, ANIMAL; GENETIC PREDISPOSITION TO DISEASE; GENOMIC INSTABILITY; HUMANS; MODELS, GENETIC; PRECANCEROUS CONDITIONS; SKIN DISEASES; SKIN NEOPLASMS; SYNDROME;

EID: 33748512571     PISSN: 16100379     EISSN: 16100387     Source Type: Journal    
DOI: 10.1111/j.1610-0387.2006.06047.x     Document Type: Review

References (50)

1. Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature 2001; 411: 366-374.
2. Runger TM, Emmert S, Schadendorf D, Diem C, Epe B, Hellfritsch D. Alterations of DNA repair in melanoma cell lines resistant to cisplatin, fotemustine, or etoposide. J Invest Dermatol 2000; 114: 34-39.
3. Lehmann AR. Replication of damaged DNA by translesion synthesis in human cells. FEBS Lett 2005; 579: 873-876.
4. Emmert S, Kobayashi N, Khan SG, Kraemer KH. The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts. Proc Natl Acad Sci U S A 2000; 97: 2151-2156.
5. de Boer J, Hoeijmakers JH. Nucleotide excision repair and human syndromes. Carcinogenesis 2000; 21: 453-460.
6. van Steeg H, Kraemer KH. Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer. Mol Med Today 1999; 5: 86-94.
7. Kornberg A, Baker TA. DNA Replication, W.H. Freeman, New York, 1992.
8. Ferguson DO, Alt FW. DNA double strand break repair and chromosomal translocation: lessons from animal models. Oncogene 2001; 20: 5572-5579.
9. Gatti RA. The inherited basis of human radiosensitivity. Acta Oncol 2001; 40: 702-711.
10. Khanna KK, Jackson SP. DNA doublestrand breaks: signaling, repair and the cancer connection. Nat Genet 2001; 27: 247-254.
11. Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JH. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: Vogelstein B, Kinzler KW: The Genetic Basis of Human Cancer. New York: McGraw-Hill, 2002: 211-237.
12. Herouy Y, Krutmann J, Norgauer J, Schöpf E. Xeroderma pigmentosum: children of the moon. JDDG 2003; 1: 191-198.
13. Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol 1985; 3: 33-69.
14. Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH. Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients. J Invest Dermatol 2002; 118: 972-982.
15. Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 2001; 44: 891-920.
16. Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet 2004; 36: 714-719.
17. Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A 1997; 94: 8658-8663.
18. Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet 2001; 10: 2539-2547.
19. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 2003; 21: 1174-1179.
20. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med 2003; 138: 560-570.
21. Jonas J, Kruse R, Bahr R. Muir-Torre syndrome. Chirurg 2002; 73: 366-369.
22. Lynch HT, Leibowitz R, Smyrk T, Fusaro RM, Lynch JF, Smith A, Franklin B, Stella A, Liu B. Colorectal cancer and the Muir-Torre syndrome in a Gypsy family: a review. Am J Gastroenterol 1999; 94: 575-580.
23. Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol 1997; 15: 2744-2758.
24. Grips E, Wentzensen N, Sutter C, Sedlaczek O, Gebert J, Weigel R, Schwartz A, Knebel-Doeberitz M, Hennerici M. Glioblastoma multiforme as a manifestation of Turcot syndrome. Nervenarzt 2002; 73: 177-182.
25. De la Torre C, Pincheira J, Lopez-Saez JF. Human syndromes with genomic instability and multiprotein machines that repair DNA double-strand breaks. Histol Histopathol 2003; 18: 225-243.
26. Thompson LH, Schild D. Recombinational DNA repair and human disease. Mutat Res 2002; 509: 49-78.
27. Shiloh Y, Kastan MB. ATM: genome stability, neuronal development, and cancer cross paths. Adv Cancer Res 2001; 83: 209-254.
28. Digweed M, Reis A, Sperling K. Nijmegen breakage syndrome: consequences of defective DNA double strand break repair. Bioessays 1999; 21: 649-656.
29. The International Nijmegen Breakage Syndrome Study Group. Nijmegen breakage syndrome. Arch Dis Child 2000; 82: 400-406.
30. Matsuura S, Tauchi H, Nakamura A, Kondo N, Sakamoto S, Endo S, Smeets D, Solder B, Belohradsky BH, Der K, V, Oshimura M, Isomura M, Nakamura Y, Komatsu K. Positional cloning of the gene for Nijmegen breakage syndrome. Nat Genet 1998; 19: 179-181.
31. Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999; 99: 577-587.
32. Lavin MF, Concannon P, Gatti RA. Eighth International Workshop on Ataxia-Telangiectasia (ATW8). Cancer Res 1999; 59: 3845-3849.
33. German J. Bloom's syndrome. Dermatol Clin 1995; 13: 7-18.
34. German J. Bloom syndrome: a mendelian prototype of somatic mutational disease. Medicine (Baltimore) 1993; 72: 393-406.
35. Opresko PL, Cheng WH, von Kobbe C, Harrigan JA, Bohr VA. Werner syndrome and the function of the Werner protein; what they can teach us about the molecular aging process. Carcinogenesis 2003; 24: 791-802.
36. Chen L, Oshima J. Werner Syndrome. J Biomed Biotechnol 2002; 2: 46-54.
37. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 2001; 102: 11-17.
38. Marin-Bertolin S, Amorrortu-Velayos J, Aliaga BA. Squamous cell carcinoma of the tongue in a patient with Rothmund-Thomson syndrome. Br J Plast Surg 1998; 51: 646-648.
39. Yin J, Kwon YT, Varshavsky A, Wang W. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Hum Mol Genet 2004; 13: 2421-2430.
40. Tischkowitz MD, Hodgson SV. Fanconi anaemia. J Med Genet 2003; 40: 1-10.
41. Alter BP. Cancer in Fanconi anemia, 1927-2001. Cancer 2003; 97: 425-440.
42. Auerbach AD, Buchwald M, Joenje H. Fanconi anemia. In: Scriver CA, Beaudet AL, Sly WS, Valle D: The metabolic basis of inherited disease. New York: McGraw-Hill, 2000: 753-768.
43. Auerbach AD, Adler B, Chaganti RS. Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 1981; 67: 128-135.
44. D'Andrea AD, Grompe M. The Fanconi anaemia/BRCA pathway. Nat Rev Cancer 2003; 3: 23-34.
45. Taniguchi T, Tischkowitz M, Ameziane N, Hodgson SV, Mathew CG, Joenje H, Mok SC, D'Andrea AD. Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat Med 2003; 9: 568-574.
46. O'Driscoll M, Gennery AR, Seidel J, Concannon P, Jeggo PA. An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. DNA Repair (Amst) 2004; 3: 1227-1235.
47. Dunn J, Potter M, Rees A, Runger TM. Ultraviolet light activates the Fanconi anemia/BRCA pathway during S-phase. 2006; eingereicht.
48. Blankenburg S, Konig IR, Moessner R, Laspe P, Thoms KM, Krueger U, Khan SG, Westphal G, Berking C, Volkenandt M, Reich K, Neumann C, Ziegler A, Kraemer KH, Emmert S. Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. Carcinogenesis 2005; 26: 1085-1090.
49. Runger TM, Vergilis I, Sarkar P, DePinho RA, Sharpless NE. How disruption of cell cycle regulating genes might predispose to sun-induced skin cancer. Cell Cycle 2005; 4: 643-645.
50. Takebayashi Y, Pourquier P, Zimonjic DB, Nakayama K, Emmert S, Ueda T, Urasaki Y, Kanzaki A, Akiyama SI, Popescu N, Kraemer KH, Pommier Y. Antiproliferative activity of ecteinascidin 743 is dependent upon transcription-coupled nucleotide-excision repair. Nat Med 2001; 7: 961-966.