Somatic mutations in thePTCH,SMOH,SUFUHandTP53genes in sporadic basal cell carcinomas

British Journal of Dermatology - Tập 152 Số 1 - Trang 43-51 - 2005
J. Reifenberger1, Marietta Wolter1, Christiane B. Knobbe‐Thomsen1, Benjamin Köhler1, Alexandra Schönicke1, C. Scharwächter1, Krishan Kumar1, Britta Blaschke1, Thomas Ruzicka1, G. Reifenberger1
1Departments of Dermatology and Neuropathology, Heinrich‐Heine‐University, Moorenstraße 5, D‐40225 Düsseldorf, Germany

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Diepgen, 2002, The epidemiology of skin cancer, Br J Dermatol, 61, 1, 10.1046/j.1365-2133.146.s61.2.x

Brash, 1987, Photoproduct frequency is not the major determinant of UV base substitution hot-spots or cold spots in human cells, Proc Natl Acad Sci USA, 84, 3782, 10.1073/pnas.84.11.3782

Hahn, 1996, Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome, Cell, 85, 841, 10.1016/S0092-8674(00)81268-4

Johnson, 1996, Human homolog of patched, a candidate gene for the basal cell nevus syndrome, Science, 272, 1668, 10.1126/science.272.5268.1668

Gailani, 1996, The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas, Nat Genet, 14, 78, 10.1038/ng0996-78

Xie, 1998, Activating Smoothened mutations in sporadic basal-cell carcinoma, Nature, 391, 90, 10.1038/34201

Reifenberger, 1998, Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumours of the central nervous system, Cancer Res, 58, 1798

Giglia-Mari, 2003, TP53 mutations in human skin cancers, Hum Mutat, 21, 217, 10.1002/humu.10179

van der Schroeff, 1990, Ras oncogene mutations in basal cell carcinomas and squamous cell carcinomas of human skin, J Invest Dermatol, 94, 423, 10.1111/1523-1747.ep12874504

Pierceall, 1991, Ras gene mutation and amplification in human nonmelanoma skin cancers, Mol Carcinog, 4, 196, 10.1002/mc.2940040306

Cohen, 2003, The hedgehog signaling network, Am J Med Genet, 123A, 5, 10.1002/ajmg.a.20495

Wetmore, 2003, Sonic hedgehog in normal and neoplastic proliferation: insight gained from human tumours and animal models, Curr Opin Genet Dev, 13, 34, 10.1016/S0959-437X(03)00002-9

Altaba, 2002, Gli and hedgehog in cancer: tumours, embryos and stem cells, Nat Rev Cancer, 2, 361, 10.1038/nrc796

Taylor, 2002, Mutations in SUFU predispose to medulloblastoma, Nat Genet, 31, 306, 10.1038/ng916

Dlugosz, 2002, Progress in cutaneous cancer research, J Invest Dermatol Symp Proc, 7, 17, 10.1046/j.1523-1747.2002.19631.x

Reifenberger, 2004, Frequent alterations of Ras signaling pathway genes in sporadic malignant melanomas, Int J Cancer, 109, 377, 10.1002/ijc.11722

Campbell, 1993, Codon 12 Harvey-ras mutations are rare events in non-melanoma human skin cancer, Br J Dermatol, 128, 111, 10.1111/j.1365-2133.1993.tb15137.x

Wilke, 1993, H-ras-1 gene mutations in basal cell carcinoma: automated direct sequencing of clinical specimens, Mod Pathol, 6, 15

Owens, 2003, Contribution of stem cells and differentiated cells to epidermal tumours, Nat Rev Cancer, 3, 444, 10.1038/nrc1096

Stenn, 2001, Controls of hair follicle cycling, Physiol Rev, 81, 449, 10.1152/physrev.2001.81.1.449

El-Bahrawy, 2003, Expression of beta-catenin in basal cell carcinoma, Br J Dermatol, 148, 964, 10.1046/j.1365-2133.2003.05240.x

Yamazaki, 2001, Immunohistochemical detection for nuclear beta-catenin in sporadic basal cell carcinoma, Br J Dermatol, 145, 771, 10.1046/j.1365-2133.2001.04468.x

van den Boom, 2003, Characterization of gene expression profiles associated with glioma progression using oligonucleotide-based microarray analysis and real-time reverse transcription-polymerase chain reaction, Am J Pathol, 163, 1033, 10.1016/S0002-9440(10)63463-3

Sambrook, 1989, Molecular Cloning: a Laboratory Manual, 9.17

Reifenberger, 2002, Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC, Int J Cancer, 100, 549, 10.1002/ijc.10512

Boström, 1997, Deletion mapping of the short arm of chromosome 1 identifies a common region of deletion distal to D1S496 in human meningiomas, Acta Neuropathol (Berl), 94, 479, 10.1007/s004010050736

Wolter, 1997, Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumours of the central nervous system, Cancer Res, 57, 2581

Unden, 1996, Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation, Cancer Res, 56, 4562

Aszterbaum, 1998, 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, 10.1046/j.1523-1747.1998.00222.x

Evans, 2000, The spectrum of patched mutations in a collection of Australian basal cell carcinomas, Hum Mutat, 16, 43, 10.1002/1098-1004(200007)16:1<43::AID-HUMU8>3.0.CO;2-7

Zhang, 2001, Role of PTCH and p53 genes in early-onset basal cell carcinoma, Am J Pathol, 158, 381, 10.1016/S0002-9440(10)63980-6

Kim, 2002, Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias, J Dermatol Sci, 29, 1, 10.1016/S0923-1811(01)00170-0

van der Riet, 1994, Progression of basal cell carcinoma through loss of chromosome 9q and inactivation of a single p53 allele, Cancer Res, 54, 25

Gailani, 1996, Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma, J Natl Cancer Inst, 88, 349, 10.1093/jnci/88.6.349

Ling, 2001, PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer, Oncogene, 20, 7770, 10.1038/sj.onc.1204946

Bodak, 1999, High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum, Proc Natl Acad Sci USA, 96, 5117, 10.1073/pnas.96.9.5117

D'Errico, 2000, UV mutation signature in tumour suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients, Oncogene, 19, 463, 10.1038/sj.onc.1203313

Couve-Privat, 2002, Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients, Cancer Res, 62, 7186

Kogerman, 1999, Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1, Nat Cell Biol, 1, 312, 10.1038/13031

Taylor, 2004, Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling, Oncogene, 23, 4577, 10.1038/sj.onc.1207605

Dahmane, 1997, Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours, Nature, 389, 876, 10.1038/39918

Ghali, 1999, Gli1 protein is expressed in basal cell carcinomas, outer root sheath keratinocytes and a subpopulation of mesenchymal cells in normal human skin, J Invest Dermatol, 113, 595, 10.1046/j.1523-1747.1999.00729.x

Bonifas, 2001, Activation of expression of hedgehog target genes in basal cell carcinomas, J Invest Dermatol, 116, 739, 10.1046/j.1523-1747.2001.01315.x

Nilsson, 2000, Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1, Proc Natl Acad Sci USA, 97, 3438, 10.1073/pnas.97.7.3438

Rady, 1992, p53 mutations in basal cell carcinomas, Cancer Res, 52, 3804

Ziegler, 1993, Mutation hotspots due to sunlight in the p53 gene of nonmelanoma skin cancers, Proc Natl Acad Sci USA, 90, 4216, 10.1073/pnas.90.9.4216

Moles, 1993, p53 gene mutations in human epithelial skin cancers, Oncogene, 8, 583

Bolshakov, 2003, p53 mutations in human aggressive and nonaggressive basal and squamous cell carcinomas, Clin Cancer Res, 9, 228

Pontén, 1997, Genomic analysis of single cells from human basal cell cancer using laser-assisted capture microscopy, Mutat Res, 382, 45

Wetmore, 2001, Loss of p53 but not ARF accelerates medulloblastoma in mice heterozygous for patched, Cancer Res, 61, 513

Sironi, 2004, Loss of heterozygosity on chromosome 4q32-35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes, J Cutan Pathol, 31, 318, 10.1111/j.0303-6987.2004.0187.x

Lodygin, 2003, Analysis of 14-3−3sigma expression in hyperproliferative skin diseases reveals selective loss associated with CpG-methylation in basal cell carcinoma, Oncogene, 22, 5519, 10.1038/sj.onc.1206854

Davies, 2002, Mutations of the BRAF gene in human cancer, Nature, 417, 949, 10.1038/nature00766

Pollock, 2003, High frequency of BRAF mutations in nevi, Nat Genet, 33, 19, 10.1038/ng1054