DOI: 10.1038/sj.jid.5700923. UV Fingerprints Predominate in the PTCH Mutation Spectra of Basal Cell Carcinomas Independent of Clinical Phenotype

UV Fingerprints Predominate in the PTCH Mutation Spectra of Basal Cell Carcinomas Independent of Clinical Phenotype

10.1038/sj.jid.5700923

Crossref journal-article

Elsevier BV

Journal of Investigative Dermatology (78)

Authors 5

Ellen Heitzer (first)
Anita Lassacher (additional)
Franz Quehenberger (additional)
Helmut Kerl (additional)
Peter Wolf (additional)

References 58 Referenced 27

10.1073/pnas.0401141101 / Proc Natl Acad Sci USA / The basal layer in human squamous tumors harbors more UVA than UVB fingerprint mutations: a role for UVA in human skin carcinogenesis by Agar (2004)
{'key': '10.1038/sj.jid.5700923_bb0015', 'series-title': 'Molecular biology of the cell', 'author': 'Alberts', 'year': '2002'} / Molecular biology of the cell by Alberts (2002)
10.1111/j.1365-2133.2005.06464.x / Br J Dermatol / PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer by Asplund (2005)
10.1038/15242 / Nat Med / Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice by Aszterbaum (1999)
10.1046/j.1523-1747.1998.00222.x / J Invest Dermatol / Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome by Aszterbaum (1998)
10.1093/hmg/10.7.757 / Hum Mol Genet / The hedgehog pathway and basal cell carcinomas by Bale (2001)
10.1371/journal.pbio.0040232 / PLoS Biol / Repression of smoothened by patched-dependent (pro-)vitamin D3 secretion by Bijlsma (2006)
10.1073/pnas.96.9.5117 / Proc Natl Acad Sci USA / High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum by Bodak (1999)
{'key': '10.1038/sj.jid.5700923_bb0050', 'first-page': '4599', 'article-title': 'Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients', 'volume': '56', 'author': 'Chidambaram', 'year': '1996', 'journal-title': 'Cancer Res'} / Cancer Res / Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients by Chidambaram (1996)
10.1016/0190-9622(95)91401-3 / J Am Acad Dermatol / The significance of mast cells in basal cell carcinoma by Cohen (1995)
10.1038/39918 / Nature / Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours by Dahmane (1997)
10.1038/sj.jid.5700209 / J Invest Dermatol / Allelic loss at Drosophila patched gene is highly prevalent in basal and squamous cell carcinomas of the skin by Danaee (2006)
10.1038/sj.onc.1203313 / Oncogene / UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients by D'Errico (2000)
{'key': '10.1038/sj.jid.5700923_bb0075', 'series-title': 'Basaliome in der Steiermark: epidemiologische UV-Risikoanalyse [Basal cell carcinomas in styria: epidemiologic UV risk analysis]', 'author': 'Ferra', 'year': '2002'} / Basaliome in der Steiermark: epidemiologische UV-Risikoanalyse [Basal cell carcinomas in styria: epidemiologic UV risk analysis] by Ferra (2002)
10.1002/humu.9132 / Hum Mutat / Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients by Fujii (2003)
10.1093/jnci/88.6.349 / J Natl Cancer Inst / Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma by Gailani (1996)
10.1038/ng0996-78 / Nat Genet / The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas by Gailani (1996)
10.1093/bioinformatics/btg382 / Bioinformatics / A global test for groups of genes: testing association with a clinical outcome by Goeman (2004)
10.1097/00005792-198703000-00002 / Medicine (Baltimore) / Nevoid basal-cell carcinoma syndrome by Gorlin (1987)
10.1074/jbc.271.21.12125 / J Biol Chem / A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities by Hahn (1996)
10.1016/S0092-8674(00)81268-4 / Cell / Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome by Hahn (1996)
10.1016/S0140-6736(94)91115-0 / Lancet / Glutathione S-transferase GSTM1 phenotypes and protection against cutaneous tumours by Heagerty (1994)
10.1016/0092-8674(93)90535-X / Cell / The TGF beta homolog dpp and the segment polarity gene hedgehog are required for propagation of a morphogenetic wave in the Drosophila retina by Heberlein (1993)
10.1586/14737140.2.5.570 / Expert Rev Anticancer Ther / Environment, phenotype and genetics: risk factors associated with BCC of the skin by Hoban (2002)
10.1038/bjc.1996.345 / Br J Cancer / Differential allele loss on chromosome 9q22.3 in human non-melanoma skin cancer by Holmberg (1996)
10.1016/S0300-483X(03)00150-1 / Toxicology / UV-induced skin damage by Ichihashi (2003)
10.1016/S1097-2765(00)00045-9 / Mol Cell / In vivo functions of the patched protein: requirement of the C terminus for target gene inactivation but not Hedgehog sequestration by Johnson (2000)
10.1126/science.272.5268.1668 / Science / Human homolog of patched, a candidate gene for the basal cell nevus syndrome by Johnson (1996)
10.1111/1523-1747.ep12335337 / J Invest Dermatol / Deficiency of glutathione S-transferases T1 and M1 as heritable factors of increased cutaneous UV sensitivity by Kerb (1997)
10.1016/S0923-1811(01)00170-0 / J Dermatol Sci / Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias by Kim (2002)
10.1046/j.1523-1747.2003.12085.x / J Invest Dermatol / High frequency of ultraviolet mutations at the INK4a-ARF locus in squamous cell carcinomas from psoralen-plus-ultraviolet-A-treated psoriasis patients by Kreimer-Erlacher (2003)
10.1562/0031-8655(2001)074<0323:HMFAHR>2.0.CO;2 / Photochem Photobiol / High mutation frequency at Ha-ras exons 1–4 in squamous cell carcinomas from PUVA-treated psoriasis patients by Kreimer-Erlacher (2001)
10.1038/sj.jid.5700263 / J Invest Dermatol / MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas by Liboutet (2006)
10.1002/humu.20296 / Hum Mutat / PTCH mutations: distribution and analyses by Lindström (2006)
10.1038/sj.onc.1204946 / Oncogene / PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer by Ling (2001)
10.1038/384176a0 / Nature / Biochemical evidence that patched is the Hedgehog receptor by Marigo (1996)
10.1007/s00439-002-0695-5 / Hum Genet / Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly by Ming (2002)
10.1073/pnas.0405255101 / Proc Natl Acad Sci USA / Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain by Ohgami (2004)
10.1002/1097-0142(20000901)89:5<1012::AID-CNCR10>3.0.CO;2-O / Cancer / Basal cell carcinoma by Ramachandran (2000)
{'key': '10.1038/sj.jid.5700923_bb0205', 'first-page': '61', 'article-title': 'Presentation with multiple cutaneous basal cell carcinomas: association of glutathione S-transferase and cytochrome P450 genotypes with clinical phenotype', 'volume': '8', 'author': 'Ramachandran', 'year': '1999', 'journal-title': 'Cancer Epidemiol Biomarkers Prev'} / Cancer Epidemiol Biomarkers Prev / Presentation with multiple cutaneous basal cell carcinomas: association of glutathione S-transferase and cytochrome P450 genotypes with clinical phenotype by Ramachandran (1999)
10.1111/j.1365-2133.2005.06353.x / Br J Dermatol / Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas by Reifenberger (2005)
10.1073/pnas.90.3.1013 / Proc Natl Acad Sci USA / Benzo[a]pyrene-induced murine skin tumors exhibit frequent and characteristic G to T mutations in the p53 gene by Ruggeri (1993)
{'key': '10.1038/sj.jid.5700923_bb0220', 'series-title': 'Nonmelanoma skin cancer', 'first-page': '1313', 'author': 'Scotto', 'year': '1996'} / Nonmelanoma skin cancer by Scotto (1996)
10.1046/j.0022-202x.2001.01413.x / J Invest Dermatol / Ultraviolet exposure as the main initiator of p53 mutations in basal cell carcinomas from psoralen and ultraviolet A-treated patients with psoriasis by Seidl (2001)
10.1093/nar/15.17.7155 / Nucleic Acids Res / RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression by Shapiro (1987)
10.1016/S0046-8177(99)90006-0 / Hum Pathol / Detection of loss of heterozygosity on chromosome 9q22.3 in microdissected sporadic basal cell carcinoma by Shen (1999)
10.1038/sj.bjc.6603303 / Br J Cancer / PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study by Soufir (2006)
10.1038/384129a0 / Nature / The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog by Stone (1996)
10.1002/em.20068 / Environ Mol Mutagen / PTCH polymorphism is associated with the rate of increase in basal cell carcinoma numbers during follow-up: preliminary data on the influence of an exon 12–exon 23 haplotype by Strange (2004)
10.1046/j.1529-8817.2004.00132.x / Ann Hum Genet / Susceptibility to basal cell carcinoma: associations with PTCH polymorphisms by Strange (2004)
10.1016/S1526-0046(02)00062-6 / Clin Occup Environ Med / Skin cancer and exposure to sunlight, polycyclic aromatic hydrocarbons and arsenic by Strange (2002)
{'key': '10.1038/sj.jid.5700923_bb0265', 'first-page': '4562', 'article-title': 'Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation', 'volume': '56', 'author': 'Unden', 'year': '1996', 'journal-title': 'Cancer Res'} / Cancer Res / Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation by Unden (1996)
{'key': '10.1038/sj.jid.5700923_bb0270', 'first-page': '2336', 'article-title': 'Human patched (PTCH) mRNA is overexpressed consistently in tumor cells of both familial and sporadic basal cell carcinoma', 'volume': '57', 'author': 'Unden', 'year': '1997', 'journal-title': 'Cancer Res'} / Cancer Res / Human patched (PTCH) mRNA is overexpressed consistently in tumor cells of both familial and sporadic basal cell carcinoma by Unden (1997)
10.1046/j.0022-202X.2004.22118.x / J Invest Dermatol / The ultraviolet fingerprint dominates the mutational spectrum of the p53 and Ha-ras genes in psoralen+ultraviolet A keratoses from psoriasis patients by Wolf (2004)
{'key': '10.1038/sj.jid.5700923_bb0280', 'first-page': '2581', 'article-title': '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', 'volume': '57', 'author': 'Wolter', 'year': '1997', 'journal-title': 'Cancer Res'} / Cancer Res / 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 by Wolter (1997)
10.1073/pnas.151173398 / Proc Natl Acad Sci USA / A role of PDGFRalpha in basal cell carcinoma proliferation by Xie (2001)
{'key': '10.1038/sj.jid.5700923_bb0290', 'first-page': '2369', 'article-title': 'Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors', 'volume': '57', 'author': 'Xie', 'year': '1997', 'journal-title': 'Cancer Res'} / Cancer Res / Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors by Xie (1997)
10.1038/34201 / Nature / Activating smoothened mutations in sporadic basal-cell carcinoma by Xie (1998)

Dates

Type	When
Created	18 years, 2 months ago (June 28, 2007, 6:34 a.m.)
Deposited	6 years, 4 months ago (April 29, 2019, 5:39 p.m.)
Indexed	1 year, 1 month ago (July 21, 2024, 6:32 p.m.)
Issued	17 years, 9 months ago (Dec. 1, 2007)
Published	17 years, 9 months ago (Dec. 1, 2007)
Published Print	17 years, 9 months ago (Dec. 1, 2007)

Funders 0

None

BibTeX

@article{Heitzer_2007, title={UV Fingerprints Predominate in the PTCH Mutation Spectra of Basal Cell Carcinomas Independent of Clinical Phenotype}, volume={127}, ISSN={0022-202X}, url={http://dx.doi.org/10.1038/sj.jid.5700923}, DOI={10.1038/sj.jid.5700923}, number={12}, journal={Journal of Investigative Dermatology}, publisher={Elsevier BV}, author={Heitzer, Ellen and Lassacher, Anita and Quehenberger, Franz and Kerl, Helmut and Wolf, Peter}, year={2007}, month=dec, pages={2872–2881} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2024,
        7,
        21
      ]
    ],
    "date-time": "2024-07-21T22:32:58Z",
    "timestamp": 1721601178780
  },
  "reference-count": 58,
  "publisher": "Elsevier BV",
  "issue": "12",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            2007,
            12,
            1
          ]
        ],
        "date-time": "2007-12-01T00:00:00Z",
        "timestamp": 1196467200000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "https://www.elsevier.com/tdm/userlicense/1.0/"
    },
    {
      "start": {
        "date-parts": [
          [
            2015,
            12,
            2
          ]
        ],
        "date-time": "2015-12-02T00:00:00Z",
        "timestamp": 1449014400000
      },
      "content-version": "vor",
      "delay-in-days": 2923,
      "URL": "https://www.elsevier.com/open-access/userlicense/1.0/"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2007,
        12
      ]
    ]
  },
  "DOI": "10.1038/sj.jid.5700923",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2007,
        6,
        28
      ]
    ],
    "date-time": "2007-06-28T10:34:16Z",
    "timestamp": 1183026856000
  },
  "page": "2872-2881",
  "source": "Crossref",
  "is-referenced-by-count": 27,
  "title": "UV Fingerprints Predominate in the PTCH Mutation Spectra of Basal Cell Carcinomas Independent of Clinical Phenotype",
  "prefix": "10.1016",
  "volume": "127",
  "author": [
    {
      "given": "Ellen",
      "family": "Heitzer",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Anita",
      "family": "Lassacher",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Franz",
      "family": "Quehenberger",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Helmut",
      "family": "Kerl",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Peter",
      "family": "Wolf",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "78",
  "reference": [
    {
      "key": "10.1038/sj.jid.5700923_bb0010",
      "doi-asserted-by": "crossref",
      "first-page": "4954",
      "DOI": "10.1073/pnas.0401141101",
      "article-title": "The basal layer in human squamous tumors harbors more UVA than UVB fingerprint mutations: a role for UVA in human skin carcinogenesis",
      "volume": "101",
      "author": "Agar",
      "year": "2004",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0015",
      "series-title": "Molecular biology of the cell",
      "author": "Alberts",
      "year": "2002"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0020",
      "doi-asserted-by": "crossref",
      "first-page": "868",
      "DOI": "10.1111/j.1365-2133.2005.06464.x",
      "article-title": "PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer",
      "volume": "152",
      "author": "Asplund",
      "year": "2005",
      "journal-title": "Br J Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0025",
      "doi-asserted-by": "crossref",
      "first-page": "1285",
      "DOI": "10.1038/15242",
      "article-title": "Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice",
      "volume": "5",
      "author": "Aszterbaum",
      "year": "1999",
      "journal-title": "Nat Med"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0030",
      "doi-asserted-by": "crossref",
      "first-page": "885",
      "DOI": "10.1046/j.1523-1747.1998.00222.x",
      "article-title": "Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome",
      "volume": "110",
      "author": "Aszterbaum",
      "year": "1998",
      "journal-title": "J Invest Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0035",
      "doi-asserted-by": "crossref",
      "first-page": "757",
      "DOI": "10.1093/hmg/10.7.757",
      "article-title": "The hedgehog pathway and basal cell carcinomas",
      "volume": "10",
      "author": "Bale",
      "year": "2001",
      "journal-title": "Hum Mol Genet"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0040",
      "doi-asserted-by": "crossref",
      "first-page": "e232",
      "DOI": "10.1371/journal.pbio.0040232",
      "article-title": "Repression of smoothened by patched-dependent (pro-)vitamin D3 secretion",
      "volume": "4",
      "author": "Bijlsma",
      "year": "2006",
      "journal-title": "PLoS Biol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0045",
      "doi-asserted-by": "crossref",
      "first-page": "5117",
      "DOI": "10.1073/pnas.96.9.5117",
      "article-title": "High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum",
      "volume": "96",
      "author": "Bodak",
      "year": "1999",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0050",
      "first-page": "4599",
      "article-title": "Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients",
      "volume": "56",
      "author": "Chidambaram",
      "year": "1996",
      "journal-title": "Cancer Res"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0055",
      "doi-asserted-by": "crossref",
      "first-page": "514",
      "DOI": "10.1016/0190-9622(95)91401-3",
      "article-title": "The significance of mast cells in basal cell carcinoma",
      "volume": "33",
      "author": "Cohen",
      "year": "1995",
      "journal-title": "J Am Acad Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0060",
      "doi-asserted-by": "crossref",
      "first-page": "876",
      "DOI": "10.1038/39918",
      "article-title": "Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours",
      "volume": "389",
      "author": "Dahmane",
      "year": "1997",
      "journal-title": "Nature"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0065",
      "doi-asserted-by": "crossref",
      "first-page": "1152",
      "DOI": "10.1038/sj.jid.5700209",
      "article-title": "Allelic loss at Drosophila patched gene is highly prevalent in basal and squamous cell carcinomas of the skin",
      "volume": "126",
      "author": "Danaee",
      "year": "2006",
      "journal-title": "J Invest Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0070",
      "doi-asserted-by": "crossref",
      "first-page": "463",
      "DOI": "10.1038/sj.onc.1203313",
      "article-title": "UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients",
      "volume": "19",
      "author": "D'Errico",
      "year": "2000",
      "journal-title": "Oncogene"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0075",
      "series-title": "Basaliome in der Steiermark: epidemiologische UV-Risikoanalyse [Basal cell carcinomas in styria: epidemiologic UV risk analysis]",
      "author": "Ferra",
      "year": "2002"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0080",
      "doi-asserted-by": "crossref",
      "first-page": "451",
      "DOI": "10.1002/humu.9132",
      "article-title": "Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients",
      "volume": "21",
      "author": "Fujii",
      "year": "2003",
      "journal-title": "Hum Mutat"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0085",
      "doi-asserted-by": "crossref",
      "first-page": "349",
      "DOI": "10.1093/jnci/88.6.349",
      "article-title": "Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma",
      "volume": "88",
      "author": "Gailani",
      "year": "1996",
      "journal-title": "J Natl Cancer Inst"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0090",
      "doi-asserted-by": "crossref",
      "first-page": "78",
      "DOI": "10.1038/ng0996-78",
      "article-title": "The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas",
      "volume": "14",
      "author": "Gailani",
      "year": "1996",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0095",
      "doi-asserted-by": "crossref",
      "first-page": "93",
      "DOI": "10.1093/bioinformatics/btg382",
      "article-title": "A global test for groups of genes: testing association with a clinical outcome",
      "volume": "20",
      "author": "Goeman",
      "year": "2004",
      "journal-title": "Bioinformatics"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0100",
      "doi-asserted-by": "crossref",
      "first-page": "98",
      "DOI": "10.1097/00005792-198703000-00002",
      "article-title": "Nevoid basal-cell carcinoma syndrome",
      "volume": "66",
      "author": "Gorlin",
      "year": "1987",
      "journal-title": "Medicine (Baltimore)"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0105",
      "doi-asserted-by": "crossref",
      "first-page": "12125",
      "DOI": "10.1074/jbc.271.21.12125",
      "article-title": "A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities",
      "volume": "271",
      "author": "Hahn",
      "year": "1996",
      "journal-title": "J Biol Chem"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0110",
      "doi-asserted-by": "crossref",
      "first-page": "841",
      "DOI": "10.1016/S0092-8674(00)81268-4",
      "article-title": "Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome",
      "volume": "85",
      "author": "Hahn",
      "year": "1996",
      "journal-title": "Cell"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0115",
      "doi-asserted-by": "crossref",
      "first-page": "266",
      "DOI": "10.1016/S0140-6736(94)91115-0",
      "article-title": "Glutathione S-transferase GSTM1 phenotypes and protection against cutaneous tumours",
      "volume": "343",
      "author": "Heagerty",
      "year": "1994",
      "journal-title": "Lancet"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0120",
      "doi-asserted-by": "crossref",
      "first-page": "913",
      "DOI": "10.1016/0092-8674(93)90535-X",
      "article-title": "The TGF beta homolog dpp and the segment polarity gene hedgehog are required for propagation of a morphogenetic wave in the Drosophila retina",
      "volume": "75",
      "author": "Heberlein",
      "year": "1993",
      "journal-title": "Cell"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0125",
      "doi-asserted-by": "crossref",
      "first-page": "570",
      "DOI": "10.1586/14737140.2.5.570",
      "article-title": "Environment, phenotype and genetics: risk factors associated with BCC of the skin",
      "volume": "2",
      "author": "Hoban",
      "year": "2002",
      "journal-title": "Expert Rev Anticancer Ther"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0130",
      "doi-asserted-by": "crossref",
      "first-page": "246",
      "DOI": "10.1038/bjc.1996.345",
      "article-title": "Differential allele loss on chromosome 9q22.3 in human non-melanoma skin cancer",
      "volume": "74",
      "author": "Holmberg",
      "year": "1996",
      "journal-title": "Br J Cancer"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0135",
      "doi-asserted-by": "crossref",
      "first-page": "21",
      "DOI": "10.1016/S0300-483X(03)00150-1",
      "article-title": "UV-induced skin damage",
      "volume": "189",
      "author": "Ichihashi",
      "year": "2003",
      "journal-title": "Toxicology"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0140",
      "doi-asserted-by": "crossref",
      "first-page": "467",
      "DOI": "10.1016/S1097-2765(00)00045-9",
      "article-title": "In vivo functions of the patched protein: requirement of the C terminus for target gene inactivation but not Hedgehog sequestration",
      "volume": "6",
      "author": "Johnson",
      "year": "2000",
      "journal-title": "Mol Cell"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0145",
      "doi-asserted-by": "crossref",
      "first-page": "1668",
      "DOI": "10.1126/science.272.5268.1668",
      "article-title": "Human homolog of patched, a candidate gene for the basal cell nevus syndrome",
      "volume": "272",
      "author": "Johnson",
      "year": "1996",
      "journal-title": "Science"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0150",
      "doi-asserted-by": "crossref",
      "first-page": "229",
      "DOI": "10.1111/1523-1747.ep12335337",
      "article-title": "Deficiency of glutathione S-transferases T1 and M1 as heritable factors of increased cutaneous UV sensitivity",
      "volume": "108",
      "author": "Kerb",
      "year": "1997",
      "journal-title": "J Invest Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0155",
      "doi-asserted-by": "crossref",
      "first-page": "1",
      "DOI": "10.1016/S0923-1811(01)00170-0",
      "article-title": "Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias",
      "volume": "29",
      "author": "Kim",
      "year": "2002",
      "journal-title": "J Dermatol Sci"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0160",
      "doi-asserted-by": "crossref",
      "first-page": "676",
      "DOI": "10.1046/j.1523-1747.2003.12085.x",
      "article-title": "High frequency of ultraviolet mutations at the INK4a-ARF locus in squamous cell carcinomas from psoralen-plus-ultraviolet-A-treated psoriasis patients",
      "volume": "120",
      "author": "Kreimer-Erlacher",
      "year": "2003",
      "journal-title": "J Invest Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0165",
      "doi-asserted-by": "crossref",
      "first-page": "323",
      "DOI": "10.1562/0031-8655(2001)074<0323:HMFAHR>2.0.CO;2",
      "article-title": "High mutation frequency at Ha-ras exons 1\u20134 in squamous cell carcinomas from PUVA-treated psoriasis patients",
      "volume": "74",
      "author": "Kreimer-Erlacher",
      "year": "2001",
      "journal-title": "Photochem Photobiol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0170",
      "doi-asserted-by": "crossref",
      "first-page": "1510",
      "DOI": "10.1038/sj.jid.5700263",
      "article-title": "MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas",
      "volume": "126",
      "author": "Liboutet",
      "year": "2006",
      "journal-title": "J Invest Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0175",
      "doi-asserted-by": "crossref",
      "first-page": "215",
      "DOI": "10.1002/humu.20296",
      "article-title": "PTCH mutations: distribution and analyses",
      "volume": "27",
      "author": "Lindstr\u00f6m",
      "year": "2006",
      "journal-title": "Hum Mutat"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0180",
      "doi-asserted-by": "crossref",
      "first-page": "7770",
      "DOI": "10.1038/sj.onc.1204946",
      "article-title": "PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer",
      "volume": "20",
      "author": "Ling",
      "year": "2001",
      "journal-title": "Oncogene"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0185",
      "doi-asserted-by": "crossref",
      "first-page": "176",
      "DOI": "10.1038/384176a0",
      "article-title": "Biochemical evidence that patched is the Hedgehog receptor",
      "volume": "384",
      "author": "Marigo",
      "year": "1996",
      "journal-title": "Nature"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0190",
      "doi-asserted-by": "crossref",
      "first-page": "297",
      "DOI": "10.1007/s00439-002-0695-5",
      "article-title": "Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly",
      "volume": "110",
      "author": "Ming",
      "year": "2002",
      "journal-title": "Hum Genet"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0195",
      "doi-asserted-by": "crossref",
      "first-page": "12473",
      "DOI": "10.1073/pnas.0405255101",
      "article-title": "Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain",
      "volume": "101",
      "author": "Ohgami",
      "year": "2004",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0200",
      "doi-asserted-by": "crossref",
      "first-page": "1012",
      "DOI": "10.1002/1097-0142(20000901)89:5<1012::AID-CNCR10>3.0.CO;2-O",
      "article-title": "Basal cell carcinoma",
      "volume": "89",
      "author": "Ramachandran",
      "year": "2000",
      "journal-title": "Cancer"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0205",
      "first-page": "61",
      "article-title": "Presentation with multiple cutaneous basal cell carcinomas: association of glutathione S-transferase and cytochrome P450 genotypes with clinical phenotype",
      "volume": "8",
      "author": "Ramachandran",
      "year": "1999",
      "journal-title": "Cancer Epidemiol Biomarkers Prev"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0210",
      "doi-asserted-by": "crossref",
      "first-page": "43",
      "DOI": "10.1111/j.1365-2133.2005.06353.x",
      "article-title": "Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas",
      "volume": "152",
      "author": "Reifenberger",
      "year": "2005",
      "journal-title": "Br J Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0215",
      "doi-asserted-by": "crossref",
      "first-page": "1013",
      "DOI": "10.1073/pnas.90.3.1013",
      "article-title": "Benzo[a]pyrene-induced murine skin tumors exhibit frequent and characteristic G to T mutations in the p53 gene",
      "volume": "90",
      "author": "Ruggeri",
      "year": "1993",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0220",
      "series-title": "Nonmelanoma skin cancer",
      "first-page": "1313",
      "author": "Scotto",
      "year": "1996"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0225",
      "doi-asserted-by": "crossref",
      "first-page": "365",
      "DOI": "10.1046/j.0022-202x.2001.01413.x",
      "article-title": "Ultraviolet exposure as the main initiator of p53 mutations in basal cell carcinomas from psoralen and ultraviolet A-treated patients with psoriasis",
      "volume": "117",
      "author": "Seidl",
      "year": "2001",
      "journal-title": "J Invest Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0230",
      "doi-asserted-by": "crossref",
      "first-page": "7155",
      "DOI": "10.1093/nar/15.17.7155",
      "article-title": "RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression",
      "volume": "15",
      "author": "Shapiro",
      "year": "1987",
      "journal-title": "Nucleic Acids Res"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0235",
      "doi-asserted-by": "crossref",
      "first-page": "284",
      "DOI": "10.1016/S0046-8177(99)90006-0",
      "article-title": "Detection of loss of heterozygosity on chromosome 9q22.3 in microdissected sporadic basal cell carcinoma",
      "volume": "30",
      "author": "Shen",
      "year": "1999",
      "journal-title": "Hum Pathol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0240",
      "doi-asserted-by": "crossref",
      "first-page": "548",
      "DOI": "10.1038/sj.bjc.6603303",
      "article-title": "PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study",
      "volume": "95",
      "author": "Soufir",
      "year": "2006",
      "journal-title": "Br J Cancer"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0245",
      "doi-asserted-by": "crossref",
      "first-page": "129",
      "DOI": "10.1038/384129a0",
      "article-title": "The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog",
      "volume": "384",
      "author": "Stone",
      "year": "1996",
      "journal-title": "Nature"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0250",
      "doi-asserted-by": "crossref",
      "first-page": "469",
      "DOI": "10.1002/em.20068",
      "article-title": "PTCH polymorphism is associated with the rate of increase in basal cell carcinoma numbers during follow-up: preliminary data on the influence of an exon 12\u2013exon 23 haplotype",
      "volume": "44",
      "author": "Strange",
      "year": "2004",
      "journal-title": "Environ Mol Mutagen"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0255",
      "doi-asserted-by": "crossref",
      "first-page": "536",
      "DOI": "10.1046/j.1529-8817.2004.00132.x",
      "article-title": "Susceptibility to basal cell carcinoma: associations with PTCH polymorphisms",
      "volume": "68",
      "author": "Strange",
      "year": "2004",
      "journal-title": "Ann Hum Genet"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0260",
      "doi-asserted-by": "crossref",
      "first-page": "803",
      "DOI": "10.1016/S1526-0046(02)00062-6",
      "article-title": "Skin cancer and exposure to sunlight, polycyclic aromatic hydrocarbons and arsenic",
      "volume": "2",
      "author": "Strange",
      "year": "2002",
      "journal-title": "Clin Occup Environ Med"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0265",
      "first-page": "4562",
      "article-title": "Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation",
      "volume": "56",
      "author": "Unden",
      "year": "1996",
      "journal-title": "Cancer Res"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0270",
      "first-page": "2336",
      "article-title": "Human patched (PTCH) mRNA is overexpressed consistently in tumor cells of both familial and sporadic basal cell carcinoma",
      "volume": "57",
      "author": "Unden",
      "year": "1997",
      "journal-title": "Cancer Res"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0275",
      "doi-asserted-by": "crossref",
      "first-page": "190",
      "DOI": "10.1046/j.0022-202X.2004.22118.x",
      "article-title": "The ultraviolet fingerprint dominates the mutational spectrum of the p53 and Ha-ras genes in psoralen+ultraviolet A keratoses from psoriasis patients",
      "volume": "122",
      "author": "Wolf",
      "year": "2004",
      "journal-title": "J Invest Dermatol"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0280",
      "first-page": "2581",
      "article-title": "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",
      "volume": "57",
      "author": "Wolter",
      "year": "1997",
      "journal-title": "Cancer Res"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0285",
      "doi-asserted-by": "crossref",
      "first-page": "9255",
      "DOI": "10.1073/pnas.151173398",
      "article-title": "A role of PDGFRalpha in basal cell carcinoma proliferation",
      "volume": "98",
      "author": "Xie",
      "year": "2001",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0290",
      "first-page": "2369",
      "article-title": "Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors",
      "volume": "57",
      "author": "Xie",
      "year": "1997",
      "journal-title": "Cancer Res"
    },
    {
      "key": "10.1038/sj.jid.5700923_bb0295",
      "doi-asserted-by": "crossref",
      "first-page": "90",
      "DOI": "10.1038/34201",
      "article-title": "Activating smoothened mutations in sporadic basal-cell carcinoma",
      "volume": "391",
      "author": "Xie",
      "year": "1998",
      "journal-title": "Nature"
    }
  ],
  "container-title": "Journal of Investigative Dermatology",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://api.elsevier.com/content/article/PII:S0022202X15332048?httpAccept=text/xml",
      "content-type": "text/xml",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://api.elsevier.com/content/article/PII:S0022202X15332048?httpAccept=text/plain",
      "content-type": "text/plain",
      "content-version": "vor",
      "intended-application": "text-mining"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2019,
        4,
        29
      ]
    ],
    "date-time": "2019-04-29T21:39:05Z",
    "timestamp": 1556573945000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://linkinghub.elsevier.com/retrieve/pii/S0022202X15332048"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2007,
        12
      ]
    ]
  },
  "references-count": 58,
  "journal-issue": {
    "issue": "12",
    "published-print": {
      "date-parts": [
        [
          2007,
          12
        ]
      ]
    }
  },
  "alternative-id": [
    "S0022202X15332048"
  ],
  "URL": "http://dx.doi.org/10.1038/sj.jid.5700923",
  "relation": {},
  "ISSN": [
    "0022-202X"
  ],
  "subject": [],
  "container-title-short": "Journal of Investigative Dermatology",
  "published": {
    "date-parts": [
      [
        2007,
        12
      ]
    ]
  }
}