Ultraviolet radiation mutagenesis of Hedgehog pathway genes in basal cell carcinomas

Journal of Investigative Dermatology Symposium Proceedings

Volumn 4, Issue 1, 1999, Pages 41-45

  Aszterbaum, Michelle ^a   Beech, Jenna ^a   Epstein Jr , Ervin H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Basal cell carcinoma; Hedgehog pathway; p53 and ultraviolet radiation; PATCHED

Indexed keywords

GENE PRODUCT; PROTEIN P53; RAS PROTEIN; SONIC HEDGEHOG PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; BASAL CELL CARCINOMA; CONFERENCE PAPER; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; ONCOGENE RAS; RADIATION CARCINOGENESIS; RAT; SKIN CARCINOGENESIS; TUMOR SUPPRESSOR GENE; ULTRAVIOLET B RADIATION;

EID: 0032861601     PISSN: 10870024     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.jidsp.5640179     Document Type: Conference Paper

References (52)

1. Ananthaswamy HN, Applegate LA, Goldberg LH, Bales ES: Deletion of the c-Ha-ras-1 allele in human skin cancers. Mol Carcinogen 2:298-301, 1989
2. Aszterbaum M, Rothman A, Johnson RL, et al: Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. J Invest Dermatol 110:885-888, 1998
3. Beroud C, Verdier F, Soussi T: p53 gene mutation: software and database. Nucl Acids Res 24: 147-150, 1996
4. Bonifas JM, Bare JW, Kerschmann RL, Master SP, Epstein EH: Parental origin of chromosome 9q22.3-q31 lost in basal cell carcinomas from basal cell nevus syndrome patients. Human Molec Genet 3:447-448, 1994
5. Brash DE, Rudolph JA, Simon JA, et al: A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma. Proc Natl Acad Sci USA 88:10124-10128, 1991
6. Campbell C, Quinn AG, Angus B, Rees JL: The relation between p53 mutation and p53 immunostaining in non-melanoma skin cancer. Br J Dermatol 129:235-241, 1993
7. Chen Y, Struhl G: Dual roles for Patched in sequestering and transducing Hedgehog. Cell 87:553-563, 1996
8. Dahmane N, Lee J, Robins P, Heller P, Ruiz i Altaba: Activation of the transcription factor Gli 1 and the sonic hedgehog signaling pathway in skin tumours. Nature (Lond): 876-881, 1997
9. Terracini B, Dammert K, Shubik P: Histopathology of tumors induced in with polyoxyethylene sorbitan monostearate. J Natl Cancer Inst 25:573
10. Drobetsky EA, Grosovsky AJ, Glickman BW: The specificity of UV-induced mutations at an endogenous locus in mammalian cells. Proc Natl Acad Sci 84:9103-9107, 1987
11. Fears TR, Scotto J: Changes in skin cancer morbidity between 1971 and 72 and 1977-78. J Natl Cancer Inst 69:365-370, 1982
12. Friedman E, Gejman PV, Martin GA, McCormic F: Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumors. Nature Gen 5:242-247, 1993
13. Gailani MR, Leffell DJ, Ziegler AM, Gross EG, Brash DE, Bale AE: Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma. J Natl Cancer Inst 88:349-354, 1996a
14. Gailani MR, Stahle-Backdahl M, Leffell DJ, et al: The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nature Genet 14:78-81, 1996b
15. Giles GG, Marks R, Foley P. Incidence of non-melanocytic skin cancer treated in Australia. Br Med J (Clin Res Ed) 296:13-17, 1988
16. Goodrich LV, Milenkovic L, Higgins KM, Scott MP: Altered neural cell fates and medulloblastoma in mouse patched mutants. Science 277:1109-1113, 1997
17. Gorlin RJ: Nevoid basal cell carcinoma syndrome. Medicine 66:98-109, 1987
18. Green J, Leigh IM, Poulsom R, Quinn AG: Basal cell carcinoma development is associated with induction of the expression of the transcription factor Gli-1. Br J Derm 139:911-915, 1998
19. Hahn H, Christiansen J, Wicking C, Zaphiropoulos PG, et al: A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. J Biol Chem 271:12125-12128, 1996a
20. Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 85:841-851, 1996b
21. Hahn H, Wojnowski L, Zimmer AM, Hall J, Miller G, Zimmer A: Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome. Nature Med 4:619-622, 1998
22. Johnson RL, Rothman AL, Xie J, et al: Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-1671, 1996
23. Jonason AS, Kunala S, Price GJ, et al. Frequent clones of p53-mutated keratinocytes in normal human skin. Proc Natl Acad Sci USA 93:14025-14029, 1996
24. Kallassy M, Toftgard R, Ueda M, Nakazawa K, Vorechovsky I, Yamasaki H, Nakazawa H: Patched (ptch) -associated preferential expression of smoothened (smoh) in human basal cell carcinoma of the skin. Cancer Res 57:4731-4735, 1997
25. Kricker A, Armstrong BK, English DR, Heenan PJ: Pigmentary and cutaneous risk factors for non-melanocytic skin cancer: a case control study. Int J Cancer 48:650-662, 1991
26. Kubo Y, Urano Y, Yoshimoto K, Iwahana H, Fukuhara K, Arase S, Itakura M: p53 gene mutations in human skin cancers and precancerous lesions: comparison with immunohistochemical analysis. J Invest Dermatol 102:440-444, 1994
27. Lear JT, Smith AG, Heagerty AHM, et al: Truncal site and detoxifying enzyme polymorphisms significantly reduce time to presentation of further primary cutaneous basal cell carcinoma. Carcinogenesis 18:1499-1503, 1997
28. Levant S, Gorlin RJ, Faller S, Johnson DR, Fantasia JE, Bale AE: A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 12:85-87, 1996
29. Marigo V, Davey RA, Zuo Y, Cunningham JM, Tabin CJ: Biochemical evidence that Patched is the Hedgehog receptor. Nature 384:176-179, 1996
30. McGregor WG, Chen RH, Lukash L, Maher VM, McCormic JJ: Cell cycle-dependent strand bias for uv-induced mutations in the transcribed strand of excision repair-proficient human fibroblasts but not in repair-deficient cells. Mol Cell Biol 11:1927-1934, 1991
31. Merenemies L: Zum mechanismus der hauttumorbildung bei mäusen unterscht mit hilfe einiger nichtionisierbaren oberflächenaktiven tumorauslösersubstanzen. Acta Path et Microbiol Scandinav (Suppl. 130):1-107, 1959
32. Miller DL, Weinstock MA: Non-melanoma skin cancer in the United States: incidence. J Am Acad Dermatol 30:774-778, 1994
33. Moles JP, Moyret C, Guillot B, Jeanteur P, Guilhou JJ, Theillet C, Basset-Segun N: p53 mutations in human epithelial skin cancers. Oncogene 8:583-588, 1993
34. Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH, Scott MP: Basal cell carcinomas in mice overexpressing sonic hedgehog. Science 276:817-821, 1997
35. Pierceall WE, Goldberg LH, Tainsky MA, Mukopadhyay T, Ananthaswamy HN: Ras gene mutation and amplification in human nonmelanoma skin cancers. Mol Carcinog4:196-202, 1991a
36. Pierceall WE, Mukhopadhyay T, Goldberg LH, Ananthawamy N: Mutations in the p53 tumor suppressor gene in human cutaneous squamous cell carcinomas. Mol Carcinog 4:445-449, 1991b
37. Rady P, Scinicariello Wagner RF, Tyring SK: p53 mutations in basal cell carcinomas. Cancer Res 52:3804-3806, 1992
38. Raffel C, Jenkins RB, Frederick L, Hebrink D, Alderete B, Fults DW, James CD: Sporadic medulloblastomas contain PTCH mutations. Cancer Res 57:842-845, 1997
39. Reifenberger J, Wolter M, Weber RG, Megahed M, Ruzicka T, Lichter P, Reifenberger G: Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res 58:1798-1803, 1998
40. van der Riet P, Karp D, et al: Frequent loss of chromosome 9p21-22 early in head and neck cancer progression. Cancer Res 54:25-27, 1994
41. van der Schroeff JG, Evers LM, Goot AJM, Bos JL: Ras oncogene mutations in basal cell carcinomas and squamous cell carcinomas of human skin. J Invest Dermatol 94:423-425, 1990
42. Scotto J, Fears TR, Fraumeni JF Jr. Incidence of Non-melanoma Skin Cancel in the United States. Bethesda: National Cancer Institute NIH Publications, no. 82-2433, 1983
43. Unden AB, Holberg E, Lundh-Rozell B, Stahl-Backdahl M, Zaphiropoulos PG, Toftgard R, Vorechovsky I: Mutations in the human holologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin Syndrome: different in vivo mechanisms of PTCH inactivation. Cancer Res 56:4562-4565, 1996
44. Unden AB, Zaphiropoulos PG, Bruce K, Toftgard R, Stahle-Blackdahl M: Human patched (PTCH) mRNA is overexpressed consistently in tumor cells of both familial and sporadic basal cell carcinoma. Cancer Res 57:2336-2340, 1997
45. Vorechovsky I, Unden AB, Sandstedt B, Toftgard R, Stahle-Backdahl M: Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis. Cancer Res 57:4677-4681, 1997
46. Wallberg P, Skog E: The incidence of basal cell carcinoma in an area of Stockholm County during the period 1971-80. Acta Derm Venereol (Stockh) 71:134-137, 1991
47. Wolter M, Reifenberger J, Sommer C, Ruzicka T, Reifenberger G: Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res 57:2581-2585, 1997
48. Xie J, Johnson RL, Zhang X, et al: Mutations of the PATCHED gene in several types of sporadic extracutanteous tumors. Cancer Res 57:2369-2372, 1997
49. Xie J, Murone M, Luoh SM, et al: Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391:90-92, 1998
50. Zackheim HS, Simpson WL, Langs L: Basal cell epitheliomas and other skin tumors produced in rats and mice by anthramine and methylcholanthrene. J Invest Derm 33:385-401, 1959
51. Zackheim HS, Krobock E, Langs L: Cutaneous neoplasms in the rat produced by grenz ray and 80 kv x-ray. J Invest Derm 43:519-534, 1964
52. Ziegler A, Leffell DJ, Kunala S, et al: Mutation hotspots due to sunlight in the p53 gene of nonmelanoma skin cancers. Proc Natl Acad Sci USA 90:4216-4220, 1993