Allelic loss at Drosophila patched gene is highly prevalent in basal and squamous cell carcinomas of the skin

Journal of Investigative Dermatology

Volumn 126, Issue 5, 2006, Pages 1152-1158

  Danaee, Hadi ^a   Karagas, Margaret R ^b   Kelsey, Karl T ^a   Perry, Ann E ^b   Nelson, Heather H ^a  

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b DARTMOUTH MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BASAL CELL CARCINOMA; BASAL CELL NEVUS SYNDROME; BURN; CHROMOSOME 9Q; DROSOPHILA PATCHED GENE; FEMALE; GENE; GENE FREQUENCY; GENE LOCATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY LOSS; HUMAN; KERATINOCYTE; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PRIORITY JOURNAL; SKIN CARCINOMA; SQUAMOUS CELL CARCINOMA; SUN EXPOSURE; SUNBURN; UNITED STATES;

ADULT; AGED; CARCINOMA, BASAL CELL; CARCINOMA, SQUAMOUS CELL; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; RECEPTORS, CELL SURFACE; SKIN NEOPLASMS;

EID: 33646121990     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700209     Document Type: Article

References (50)

1. Aboulkassim T, LaRue H, Lemieux P, Rousseau F, Fradet Y (2003) Alteration of the PATCHED locus in superficial bladder cancer. Oncogene 22:2967-71
2. ACS (2002) Cancer Facts and Figures, 2002 (http://www.cancer.org/docroot/STT/stt_0_2002.asp?sitearea=ST&level=1)
3. Ahmadian A, Ren ZP, Williams C, Ponten F, Odeberg J, Ponten J et al. (1998) Genetic instability in the 9q22.3 region is a late event in the development of squamous cell carcinoma. Oncogene 17:1837-43
4. Asplund A, Gustafsson AC, Wikonkal NM, Sela A, Leffell DJ, Kidd K et al. (2005) PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer. Br J Dermatol 152:868-73
5. Aszterbaum M, Epstein J, Oro A, Couglas V, LeBoit PE, Scott MP et al. (1999) Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. Nat Med 5:1285-91
6. Bale A, Yu K-P (2001) The hedgehog pathway and basal cell carcinomas. Hum Mol Genet 10:757-62
7. Cairns P, Shaw ME, Knowles MA (1993) Preliminary mapping of the deleted region of chromosome 9 in bladder cancer. Cancer Res 53:1230-2
8. Eklund L, Lindstrom E, Unden AB, Lundh-Rozell B, Stahle-Backdahl M, Zaphiropoulos PG et al. (1998) Mutation analysis of the human homologue of Drosophila patched and the xeroderma pigmentosum complementation group A genes in squamous cell carcinoma of the skin. Mol Carcinogenesis 21:87-92
9. Gailani M, Bale SJ, Leffell DJ, DiGiovanna JJ, Peck GL, Poliak S et al. (1992) Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 69:111-7
10. Gorlin R (1995) Nevoid basal cell carcinoma syndrome. Dermatol Clin 13:113-25
11. Granga F, Santarosa PL, Leite JL, Ward LS (2003) No evidence for mutations in exons 1, 8, and 18 of the patched gene in sporadic skin lesions of Brazilian patients. Braz J Med Biol Res 36:459-62
12. Hahn H, Wlcking C, Zaphiropoulous PG, Gailini MR, Shanley S, Chidambaram A et al. (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-51
13. Hamed S, LaRue H, Hovington H, Girard J, Jeannotte L, Latulippe E et al. (2004) Accelerated induction of bladder cancer in patched heterozygous mutant mice. Cancer Res 64:1938-42
14. Harris R, Griffith K, Moon TE (2001) Trends in the incidence of nonmelanoma skin cancers in southeastern Arizona, 1985-1996. J Am Acad Dermatol 45:528-36
15. He C, Zhang X, Wang Y, Sun K, Chen HD (1999) Allele loss on chromosome 9q22.2-22.3 in sporadic basal cell carcinoma in Chinese. Chin Med J 112:497-500
16. Holmberg E, Rozell BL, Toftgard R (1996) Differential allele loss on chromosome 9q22.3 in human non-melanoma skin cancer. Br J Cancer 74:246-50
17. Johnson R, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM et al. (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-71
18. Karagas M, Greenberg ER, Spencer SK, Stukel TA, Mott LA (1999) Increase in incidence rates of basal cell and squamous cell skin cancer in New Hampshire, USA. New Hampshire Skin Cancer Study Group. Int J Cancer 81:555-9
19. Kim M, Park HJ, Baek SC, Byunn DG, Houh D (2002) Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias. J Dermatol Sci 29:1-9
20. Kimura F, Florl AR, Seifert HH, Louhelainen J, Maas S, Knowles MA et al. (2001) Destabilization of chromosome 9 in transitional cell carcinoma of the urinary bladder. Br J Cancer 85:1887-93
21. Ling G, Ahmadian A, Persson A, Unden AB, Afink G, Williams C et al. (2001) PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer. Oncogene 20:7770-8
22. Louhelainen J, Lindstrom E, Hemminki K, Toftgard R (1998) Dinucleotide repeat polymorphism within the tumor suppressor gene PTCH at 9q22. Clin Genet 54:239-41
23. Marigo V, Davey RA, Zuo Y, Cunningham JM, Tabin CJ (1996) Biochemical evidence that patched is the Hedgehog receptor. Nature 384:176-9
24. Matt D, Xin H, vortmeyer AO, Zhuang Z, Burg G, Boni R (2000) Sporadic trichoepithelioma demonstrates deletions at 9q22.3. Arch Dermatol 136:657-60
25. McGarvey T, Maruta Y, Tomaszewski JE, Linnenbach AJ, Malkowicz SB (1998) PTCH gene mutations in invasive transitional cell carcinoma of the bladder. Oncogene 17:1167-72
26. Mortier L, Danze PM, Delaporte E, Catteau B, Piette F, Plouvier P et al. (2000) Comparison of keratoacanthomas and squamous cell carcinoma, the point of view of microsatellites. Cancer Detect Prev 24(S1):554
27. Nagano T, Bito T, Kallassy M, Nakazawa H, Ichihashi M, Ueda M (1999) Overexpression of the human homologue of Drosophila patched (PTCH) in skin tumours: specificity for basal cell carcinoma. Br J Dermatol 140:287-90
28. Ohgaki K, Minobe K, Kurose K, Iida A, Habuchi T, Ogawa O et al. (1999) Two target regions of allelic loss on chromosome 9 in urinary-bladder cancer. Jpn J Cancer Res 90:957-64
29. Ping X, Ratner D, Zhang H, Wu XL, Zhang MJ, Chen FF et al. (2001) PTCH mutations in squamous cell carcinoma of the skin. J Invest Dermatol 116:614-6
30. Preston D, Stern RS (1992) Nonmelanoma skin cancers of the skin. N Engl J Med 327:1649-62
31. Quinn A, Healy E, Rehman I, Sikkink S, Rees JL (1995) Microsatellite instability in human non-melanoma and melanoma skin cancer. J Invest Dermatol 104:309-12
32. Quinn A, Sikkink S, Rees JL (1994a) Basal cell carcinomas and squamous cell carcinomas of human skin show distinct patterns of chromosome loss. Cancer Res 54:4756-9
33. Quinn A, Sikkink S, Rees JL (1994b) Delineation of two distinct deleted regions on chromosome 9 in human non-melanoma skin cancers. Genes Chromosome Cancer 11:222-5
34. Reifenberger J, Wolter M, Knobbe CB, Kohler B, Schonicke A, Scharwachter C et al. (2005) Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas. Br J Dermatol 152:43-51
35. Reifenberger J, Wolter M, Weber RG, Megahed M, Ruzicka T, Lichter P et al. (1998) Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res 58:1798-803
36. Scotto J, Fears TR, Kraemer KH, Fraumeni JF Jr (1996) Nonmelanoma skin cancer. In: Cancer epidemiology and prevention (Schottenfeld D, Fraumeni JF Jr, eds), New York: Oxford University Press, 1313-30
37. Shen T, Park WS, Boni R, Saini N, Pham T, Lash AE et al. (1999) Detection of loss of heterozygosity on chromosome 9q22.3 in microdissected sporadic basal cell carcinoma. Hum Pathol 30:284-7
38. Sidransky D (1996) Is human patched the gatekeeper of common skin cancers. Nat Genet 14:7-8
39. Simoneau M, Aboulkassim TO, LaRue H, Rousseau F, Fradet Y (1999) Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31. Oncogene 18:157-63
40. Simoneau M, LaRue H, Aboulkassim TO, Meyer F, Moore L, Fradet Y (2000) Chromosome 9 deletions and recurrence of superficial bladder cancer: identification of four regions of prognostic interest. Oncogene 19:6317-23
41. Stone D, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL et al. (1996) The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 384:129-34
42. Teh M, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M et al. (2005) Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res 65:8597-603
43. Vorechovsky I, Unden AB, Sandstedt B, Toftgard R, Stahle-Backdahl M (1997) Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis. Cancer Res 57:4677-81
44. Wada T, Berggren P, Steineck G, Adolfsson J, Wijkstrom H, Norming U et al. (2003) Bladder neoplasms - regions at chromosome 9 with putative tumour suppressor genes. Scand J Urol Nephrol 37:106-11
45. Wetmore C, Eberhart DE, Curran T (2000) The normal patched allele is expressed in medulloblastomas from mice with heterozygous germ-line mutation of patched. Cancer Res 60:2239-46
46. Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH et al. (1997) Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Res 57:2369-72
47. Xin H, Matt D, Zin JZ, Burg G, Boni R (1999) The sebaceous nevus: a nevus with deletions of the PTCH gene. Cancer Res 59:1834-46
48. Zaphiropoulos P, soderkvist P, Hedblad MA, Toftgard R (1994) Genetic instability of microsatellite markers in region q22.3-q31 of chromosome 9 in skin squamous cell carcinomas. Biochem Biophys Res Commun 201:1495-501
49. Zhilan H, Bonifas JM, Aragon G, Kopelovich L, Liang Y, Ohta S et al. (2003) Evidence for lack of enhanced hedgehog target gene expression in common extracutaneous tumors. Cancer Res 63:923-8
50. Zurawel R, Allen C, Wechsler-Reya R, Scott MP, Raffel C (2000) Evidence that haploinsufficiency of Ptch leads to medulloblastoma in mice. Genes Chromosome Cancer 28:77-81