Environment, phenotype and genetics: risk factors associated with BCC of the skin

References

• Karagas MR, Greenberg ER. Unresolved issues in the epidemiology of basal cell and squamous cell skin cancer. In: Skin Cancer: Mechanisms and Human Relevance. Mukhtar H (Ed.), CRC Press, Boca Raton, Florida, USA, 79–861 (1995).
   Google Scholar
• Armstrong BK, Kricker A. The epidemiology of UV induced skin cancer. j Photochem Photobiol B. Biol. 63, 8–18 (2001).
   PubMed Web of Science ®Google Scholar
• Kricker A, Armstrong BK, English DR, Heenman PJ. Does intermittent sun exposure cause basal cell carcinoma? A case-control study in western Australia. Int. Cancer 60, 489–494 (1995).
   PubMed Web of Science ®Google Scholar
• Lear JT, Tan BB, Smith AG et al Risk factors for basal cell carcinoma in the UK: case-control study in 806 patients. I Royal Soc. Med. 90, 371–374 (1997).
   Google Scholar
• de Gruijl FR, van Kranen HJ, Mullenders LHF. UV-induced DNA damage, repair mutations and oncogeneic pathways in skin cancer. j Photochem. Photobiol B. Biology 63, 19–27 (2001).
   PubMed Web of Science ®Google Scholar
• Matsumura Y, Ananthaswamy HN. Molecular Mechanisms of Photocarcinogenesis. Front Biosci. 7, 765–783 (2002).
   PubMed Web of Science ®Google Scholar
• Kielbassa C, Roza L, Epe B. Wave length dependence of oxidative DNA damage by UV and visible light. Carcinogenesis 18, 811–816 (1997).
   Google Scholar
• Ullrich SE. Photo immune suppression and photocarcinogenesis. Fmnt Biosci 7, 684–703 (2002).
   Web of Science ®Google Scholar
• Karagas MR, Stannard VA, Mott LA, Slattery MJ, Spencer SK, Weinstock MA. Use of tanning devices and risk of basal cell and squamous cell skin cancers. j Natl Cancer Inst. 94, 224–226 (2002).
   PubMedGoogle Scholar
• Boonchai W, Green A, Ng, Dicker A, Chenevix-Trench G. Basal cell carcinoma in chronic arsenicism occurring in Queensland, Australia after ingestion of an asthma medication. j Am. Acad. Detmatol 43, 664–669 (2000).
   Google Scholar
• Lear JT, Heagerty AHM, Smith A et al. Multiple cutaneous basal cell carcinomas: glutathione-&transferase (GSTM1, GSTT1) and cytochrome P450 (CYP2D6, CYP1A1) polymorphisms influence tumour numbers and accrual. Catrinogenesis 12, 1891–1896 (1996).
   Google Scholar
• Lear JT, Smith AG, Bowers B et al. Truncal tumour site is associated with high risk of multiple basal cell carcinoma and is influenced by glutathione-S-transferase, GSTT1 and cytochrome P450, CYP1A1 genotypes and their interaction. j Invest. Dermatol 108, 519–522 (1997).
   Google Scholar
• Ramachandran S, Lear JT, Ramsay H et al Presentation with multiple cutaneous basal cell carcinomas: Association of glutathione-Stransferase and cytochrome P450 genotypes with clinical phenotype. Cancer Epidemiol Biomaiker Prey 8, 61–67 (1999).
   PubMed Web of Science ®Google Scholar
• •Describes the phenotypic heterogeneity of the BCC population and how patient phenotype can influence tumor progression.
   Google Scholar
• Ramachandran S, Fryer A, Smith AG et al. Basal cell carcinoma: tumour clustering is associated with increased accrual in high-risk subgroups. Cancer 89, 1012–1018 (2000).
   PubMed Web of Science ®Google Scholar
• •Describes the phenotypic heterogeneity of the BCC population and how patient phenotype can influence tumor progression.
   Google Scholar
• Ramachandran S, Fryer AA, Smith AG et al Cutaneous basal cell carcinomas: distinct host factors are associated with the development of tumors on the trunk and on the head and neck. Cancer92 (2001).
   PubMed Web of Science ®Google Scholar
• •Describes the phenotypic heterogeneity of the BCC population and how patient phenotype can influence tumor progression.
   Google Scholar
• Lear JT, Smith A, 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).
   PubMed Web of Science ®Google Scholar
• McCormack CJ, Kelly JW, Dorevitch AR Differences in age and body site distribution of the histological subtypes of basal cell carcinoma. Arch. Dermatol 133, 593–596 (1997).
   PubMedGoogle Scholar
• Bastiaens MT, Hoefnagel JJ, Bruijn JA et al Differences in age, site distribution and sex between nodular and superficial basal cell carcinoma indicate different types of tumors. Invest. Dermatol 110, 880–884 (1998).
   PubMed Web of Science ®Google Scholar
• Heagerty AHM, Fitzgerald D, Smith A et al Glutathione-Stransferase GSTM1 phenotypes and protection against cutaneous malignancy. Lancet 343, 266–268 (1994).
   PubMed Web of Science ®Google Scholar
• Ramachandran S, Hoban PR, Ichii-Jones F et al Glutathione-Stransferase GSTP1 and cyclin D1 genotypes: association with numbers of basal cell carcinomas in a patient subgroup at high-risk of multiple tumors. Phatmacogenetics 10, 545–556 (2000).
   PubMedGoogle Scholar
• Clairmont A, Sies H, Ramachandran S et al. Association of NAD(P)H: quinone oxidoreductase NQ01 null with numbers of basal cell carcinomas: use of a multivariate model to rank the relative importance of this polymorphism and those at other relevant loci. Carcinogenesis 20, 1235–1240 (1999).
   PubMed Web of Science ®Google Scholar
• Kerb R, Brockmoller J, Reum T, Roots I. Deficiency of glutathione-Stransferases Ti and M1 as heritable factors of increased cutaneous UV sensitivity. j Invest. Dermatol 108, 229–232 (1997).
   Google Scholar
• Hayes JD, Strange RC. Glutathione 5- transferase polymorphisms and their biological consequences, Pharmacology61, 154–166 (2000).
   Google Scholar
• Tew KD, Ronai Z. GST function in drug and stress response. Drug- Resistance Updates 2,143–147(1999).
   PubMed Web of Science ®Google Scholar
• Granstein RD, Cytokines and photocarcinogenesis. Photochem. Photobiol 63, 390–394. (1996).
   PubMed Web of Science ®Google Scholar
• Cantorna MT Vitamin D and autoimmunity: is vitamin D status an environmental factor affecting autoimmune disease prevalence? Proc. Soc. Exp. Biol. Med. 223, 230–233 (2000).
   PubMed Web of Science ®Google Scholar
• Schaffer JV, Bolobnia JL. The melanocortin-1 receptor: red hair and beyond. Arch. Delmatol 137, 1477–1485 (2001).
   Google Scholar
• Jones Fl, Ramachandran S, Lear J et al. The melanocyte stimulating hormone receptor polymorphism: association of the V92M and A294H alleles with basal cell carcinoma. Clin. Chem. Acta 282, 125–134 (1999).
   Google Scholar
• Bodak N, Queille S, Avril ME et al. High levels of patched gene mutation in basal-cell carcinomas from patients with xeroderma pigmentosum PNAS96, 5117–5122 (1999).
   Google Scholar
• ••Demonstrates the influence of UV onDNA damage to genes involved in skin turnorigenesis in humans. They further highlight the importance of DNA excision repair mechanisms in protecting against UV-induced DNA mutation.
   Google Scholar
• D'Errico M, Calcagnile A, Canzona F et al. UV mutation signature in tumour suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients Oncogene 19, 463–467 (2000). Demonstrates the influence of UV on DNA damage to genes involved in skin tumorigenesis in humans. They further highlight the importance of DNA excision repair mechanisms in protecting against UV induced DNA mutation.
   Google Scholar
• Grossman L, Wei Q. DNA repair and epidemiology of basal cell carcinoma. Clin. Chem. 41, 1854–1863 (1995).
   PubMed Web of Science ®Google Scholar
• D'Errico M, Calcagnile A, Lavarone I et al. Factors that influence DNA repair capacity of normal and skin cancer-affected individuals. Cancer Epidemiol Biomarkers Prey 8, 553–559 (1999).
   Google Scholar
• Dybdahl M, Frentz G, Vogel U, Wallin H, Nexo BA. Low DNA repair is a risk factor in skin carcinogenesis: a study of basal cell carcinoma in psoriasis patients. Mut. Res. 433, 15–22 (1999).
   Google Scholar
• Dybdahl M, Vogel U, Frentz G, Wallin H, Nexo B. Polymorphisms in the DNA repair gene XPD: correlations with risk and age of onset of basal cell carcinoma. Cancer EpidemiolPirv 8, 77–81 (1999).
   PubMed Web of Science ®Google Scholar
• Vogel U, Hedayati M, Dybdahl M,Grossman L, Nexo BA. Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited. Carcinogenesis 22, 899–904 (2001).
   PubMed Web of Science ®Google Scholar
• Nelson HH, Kelsey KT, Mott LA, Karagas MR. The XRCC1 Arg399Gln polymorphism sunburn and non-melanoma skin cancer: evidence of gene—environment interaction. Cancer Res. 62, 152–155 (2002).
   PubMed Web of Science ®Google Scholar
• Ramachandran S, Fryer AA, Smith AG et al Basal cell carcinomas: association of allelic variants with a high-risk subgroup of patients with the multiple presentation phenotype. Pharmacogeneticsll, 1–8 (2001).
   Google Scholar
• •Demonstrated for the first time, an association between genetic susceptibility markers and high-risk subgroups of BCC patients.
   Google Scholar
• Ramachandran S, Fryer A, Lovatt TJ et al Combined effects of gender, skin type and polymorphic genes on clinical phenotype: use of rate of increase in numbers of basal cell carcinomas as a model system. Cancer Lett. (In Press).
   Google Scholar
• Rockenbauer E, Bendixen M, Bukowy Z et al. Association of chromosome 19q13.2-3 haplotypes with basal cell carcinoma: tentative delineation of an involved region using data for single nucleotide polymorphisms in two cohorts. Caminogenesis 23, 1149–1153 (2002).
   Google Scholar
• Steele RJC, Thompson AM, Hall PA, Lane DP. The p53 tumour suppressor gene. BE Surgery 85, 1460–1467 (1998).
   PubMed Web of Science ®Google Scholar
• D'Errico M, Calcagnile AS, Corona R et al. p53mutations and chromosome instability in basal cell carcinomas developed at early or late age. Cancer Res. 57, 747–752 (1997).
   Google Scholar
• Quinn, AG, Sikkink S, Rees JL. Basal cell carcinomas and squamous cell carcinomas of human skin show distinct patterns of chromosome loss. Cancer Res. 54, 4756–4759 (1994).
   PubMed Web of Science ®Google Scholar
• Hahn H, Wicking C, Zaphiropolous PG et al Mutations of the human homologue of drosophila patched in the nevoid basal cell carcinoma syndrome. Ce1185, 841–851 (1996).
   Google Scholar
• ••Describes the identification of thePATCHED tumor suppressor gene as a candidate gene for NBCCS and BCC predisposition.
   Google Scholar
• Johnson RL, Rothman AL, Xie J et al Human homologue of patched, a candidate gene for the basal cell nevous syndrome. Science 272, 1668–1671 (1996).
   PubMed Web of Science ®Google Scholar
• ••Describe the identification of the PTCHtumor suppressor gene as a candidate gene for NBCCS and BCC predisposition.
   Google Scholar
• Wicking C, Shanley, S, Smythe I. Most germ line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein and no genotype—phenotype correlations are evident. Ainj Hum. Genet. 60,21–26 (1997).
   PubMed Web of Science ®Google Scholar
• Unden AB, Holberg E, Lundh-Rozel B et al Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlins syndrome; different in vivo mechanisms of PTCH inactivation. Cancer Res. 56,4562–4565 (1996).
   PubMed Web of Science ®Google Scholar
• 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)
   Google Scholar
• Azsterbaum 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).
   PubMed Web of Science ®Google Scholar
• 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. 1479–1481 (1996).
   Google Scholar
• Wicking C, Smyth I, Bale A. The hedgehog signaling pathway in tumorigenesis and development. Oncogene 12, 7844–7851 (1999) .
   Google Scholar
• Fan H, Oro AE, Scott M, Khavari PA. Induction of basal cell carcinoma features in transgenic human skin expressing sonic hedgehog. Nature Med. 3, 788–792 (1997).
   PubMed Web of Science ®Google Scholar
• Oreo AE, Higgins KM, Hu, Z, Bonifar JM, Epstein EH, Scott MR Basal cell carcinomas in mice overexpressing sonic hedgehog. Science 276,817–821 (1997).
   PubMed Web of Science ®Google Scholar
• Xie J, Murone M, Luoh S-M et al Activating smoothened mutations in sporadic basal cell carcinoma. Nature 39, 190–192 (1998).
   Google Scholar
• Nilsson M, Under AB, Krause D et al Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1. Proc. Natl Acad. Sci. USA 3438–3443 (2000).
   Google Scholar
• Kallasy M, Toftgard R, Ueda M et al Patched (ptcM -associated preferential expression of smoothened (smoh) in human basal cell carcinoma of the skin. Cancer Res. 57, 4731–4735 (1997).
   PubMed Web of Science ®Google Scholar
• Dahmane N, Lee J, Robins P, Heller P, Altaba AR. Activation of the transcription factor Glil and the sonic hedgehog signaling pathway in skin tumors. Nature 389, 876–880, (1997).
   Google Scholar
• Lam C-W, Xie J, To K-F et al A frequent activated smoothened mutation in sporadic basal cell carcinomas. Oncogene 18, 833–836. (1999).
   PubMed Web of Science ®Google Scholar
• Fan H, Khavari PA. Sonic hedgehog opposes epithelial cell cycle arrest. j Cell. Biol. 147, 71–76 (1999).
   PubMed Web of Science ®Google Scholar
• Duman-Scheel M, Weng L, Xin S, Du W Hedgehog regulates cell growth and proliferation by inducing cyclin D and cyclin E. Nature 417, 299–303 (2002).
   PubMed Web of Science ®Google Scholar
• Hsu CH, Yang SA, Wang JY, Yu HS, Lin SR. Mutational spectrum of p53 gene in arsenic related skin cancers from the blackfoot disease endemic area ofTaiwan. Br. Cancer80, 1080–1086 (1999).
   Google Scholar
• Boonchai W, Walsh M, Cummings M. Expression of p53 in arsenic-related and sporadic basal cell carcinoma. Arch. Dermatol 136 (2000).
   Google Scholar
• Aszterbaum M, Beech J, Epstein EH. Ultra violet mutagenesis of hedgehog pathway genes in basal cell carcinomas. j Invest. Dermatol Symp. Proc. 4, 41–45 (1999).
   PubMedGoogle Scholar
• 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. Natl Cancer Inst. 88, 349–354, (1996).
   Google Scholar
• Dumaz N, van Kranen HJ, de vries A et al The role of UVB light in skin carcinomas through the analysis of p53 mutations in squamous cell carcinomas of hairless mice. Cawinogenesis 18, 897–904 (1997).
   PubMed Web of Science ®Google Scholar
• Aszterbaum M, Epstein J, Oro A et al. Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. Nature Med. 5,1285-1291 (1999). Describes the production of PTCI+ mice and demonstrates it to be a physiologically relevant model for the study of BCC progression on exposure to environmental carcinogens (UV and ionizing radiation).
   Google Scholar
• Sarhanis P, Redman C, Perrett C et al Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci. BE Cancer7, 1751–1755 (1996).
   Google Scholar
• Romkes M, Chem, H-D, Lesnick TG et al. Association of low CYP3A activity with p53 mutation and CYP2D6 activity with Rb mutation in human bladder cancer. Carrinogenesis 17, 11057–11062 (1996).
   Web of Science ®Google Scholar
• Hajeer A, Lear JT, Oilier WER et al Basal Cell Carcinoma Tumour clustering is associated with increased accrual in high risk subgroups Br. Dermata 142, 441–445 (2000).
   Google Scholar
• Stockfleth E, Sterry W New treatment modalities for basal cell carcinoma. Recent Results Cancer Res. 160, 259–268 (2002).
   PubMedGoogle Scholar
• Drehs MM, Cook-Bolden F, Tanzi EL, Weiberg JM. Successful treatment of multiple superficial basal cell carcinomas with topical imiquimod: case report and review of the literature. Dermatol Surg. 28, 427–429 (2002). Authors review the efficacy of a novel mechanism based treatment — imiquiod an immune enhancer in the treatment of BCC.
   Google Scholar
• Incardona JP, Gaffield W, Kapur RP, Roelink H. The teratogenic veratrum alkaloid cyclopamine inhibits sonic hedgehog signal transduction. Development 125, 3533–3562 (1998).
   Web of Science ®Google Scholar
• Taipaille J, Chen JK, Cooper MK et al Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine. Nature 406, 1005–1008. Describes how the plant-derived steroid alkaloid inhibits abnormal growth associated with mutation and activation of HH-signaling pathway, thus providing a potential mechanism based treatment for BCC.
   Google Scholar