KEGG   PATHWAY: ko05217
Entry
ko05217                     Pathway                                
Name
Basal cell carcinoma
Description
Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.
Class
Human Diseases; Cancer: specific types
Pathway map
ko05217  Basal cell carcinoma
ko05217

Disease
H00039  Basal cell carcinoma
Orthology
K04451  tumor protein p53
K06625  cyclin-dependent kinase inhibitor 1A
K04402  growth arrest and DNA-damage-inducible protein
K02159  apoptosis regulator BAX
K14021  Bcl-2 homologous antagonist/killer
K10140  DNA damage-binding protein 2
K03511  DNA polymerase kappa [EC:2.7.7.7]
K11988  sonic hedgehog
K06225  patched 1
K06226  smoothened
K18806  kinesin family member 7
K06229  suppressor of fused
K16797  zinc finger protein GLI1
K16798  zinc finger protein GLI2
K06230  zinc finger protein GLI3
K21283  bone morphogenetic protein 2
K04662  bone morphogenetic protein 4
K06231  hedgehog interacting protein
K11101  patched 2
K03209  wingless-type MMTV integration site family, member 1
K00182  wingless-type MMTV integration site family, member 2
K00312  wingless-type MMTV integration site family, member 3
K00408  wingless-type MMTV integration site family, member 4
K00444  wingless-type MMTV integration site family, member 5
K00445  wingless-type MMTV integration site family, member 6
K00572  wingless-type MMTV integration site family, member 7
K00714  wingless-type MMTV integration site family, member 8
K01064  wingless-type MMTV integration site family, member 9
K01357  wingless-type MMTV integration site family, member 10
K01384  wingless-type MMTV integration site family, member 11
K01558  wingless-type MMTV integration site family, member 16
K02432  frizzled 1/7
K02235  frizzled 2
K02329  frizzled 3
K02354  frizzled 4
K02375  frizzled 5/8
K02376  frizzled 6
K02842  frizzled 9/10
K02353  segment polarity protein dishevelled
K03083  glycogen synthase kinase 3 beta [EC:2.7.11.26]
K02157  axin 1
K04385  axin 2
K02085  adenomatosis polyposis coli protein
K02105  catenin beta 1
K02620  transcription factor 7
K04490  transcription factor 7-like 1
K04491  transcription factor 7-like 2
K04492  lymphoid enhancer-binding factor 1
Compound
C00187  Cholesterol
Reference
  Authors
Tilli CM, Van Steensel MA, Krekels GA, Neumann HA, Ramaekers FC.
  Title
Molecular aetiology and pathogenesis of basal cell carcinoma.
  Journal
Br J Dermatol 152:1108-24 (2005)
DOI:10.1111/j.1365-2133.2005.06587.x
Reference
  Authors
Saldanha G, Fletcher A, Slater DN.
  Title
Basal cell carcinoma: a dermatopathological and molecular biological update.
  Journal
Br J Dermatol 148:195-202 (2003)
DOI:10.1046/j.1365-2133.2003.05151.x
Reference
  Authors
Daya-Grosjean L, Couve-Privat S.
  Title
Sonic hedgehog signaling in basal cell carcinomas.
  Journal
Cancer Lett 225:181-92 (2005)
DOI:10.1016/j.canlet.2004.10.003
Reference
  Authors
Tsai KY, Tsao H.
  Title
The genetics of skin cancer.
  Journal
Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
DOI:10.1002/ajmg.c.30037
Reference
  Authors
Athar M, Tang X, Lee JL, Kopelovich L, Kim AL.
  Title
Hedgehog signalling in skin development and cancer.
  Journal
Exp Dermatol 15:667-77 (2006)
DOI:10.1111/j.1600-0625.2006.00473.x
Reference
  Authors
Rubin AI, Chen EH, Ratner D.
  Title
Basal-cell carcinoma.
  Journal
N Engl J Med 353:2262-9 (2005)
DOI:10.1056/NEJMra044151
Reference
  Authors
Saldanha G.
  Title
The Hedgehog signalling pathway and cancer.
  Journal
Reference
  Authors
Saldanha G, Ghura V, Potter L, Fletcher A.
  Title
Nuclear beta-catenin in basal cell carcinoma correlates with increased proliferation.
  Journal
Br J Dermatol 151:157-64 (2004)
DOI:10.1111/j.1365-2133.2004.06048.x
Reference
  Authors
Pasca di Magliano M, Hebrok M.
  Title
Hedgehog signalling in cancer formation and maintenance.
  Journal
Nat Rev Cancer 3:903-11 (2003)
DOI:10.1038/nrc1229
Reference
  Authors
Reifenberger J, Wolter M, Knobbe CB, Kohler B, Schonicke A, Scharwachter C, Kumar K, Blaschke B, Ruzicka T, Reifenberger G.
  Title
Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas.
  Journal
Br J Dermatol 152:43-51 (2005)
DOI:10.1111/j.1365-2133.2005.06353.x
Reference
  Authors
Cohen MM Jr.
  Title
The hedgehog signaling network.
  Journal
Am J Med Genet A 123:5-28 (2003)
DOI:10.1002/ajmg.a.20495
Reference
  Authors
Yamazaki F, Aragane Y, Kawada A, Tezuka T.
  Title
Immunohistochemical detection for nuclear beta-catenin in sporadic basal cell carcinoma.
  Journal
Br J Dermatol 145:771-7 (2001)
DOI:10.1046/j.1365-2133.2001.04468.x
Reference
  Authors
Erb P, Ji J, Wernli M, Kump E, Glaser A, Buchner SA.
  Title
Role of apoptosis in basal cell and squamous cell carcinoma formation.
  Journal
Immunol Lett 100:68-72 (2005)
DOI:10.1016/j.imlet.2005.06.008
Reference
  Authors
Toftgard R.
  Title
Hedgehog signalling in cancer.
  Journal
Cell Mol Life Sci 57:1720-31 (2000)
DOI:10.1007/PL00000654
Reference
  Authors
Wu F, Zhang Y, Sun B, McMahon AP, Wang Y
  Title
Hedgehog Signaling: From Basic Biology to Cancer Therapy.
  Journal
Cell Chem Biol 24:252-280 (2017)
DOI:10.1016/j.chembiol.2017.02.010
Reference
  Authors
Otsuka A, Levesque MP, Dummer R, Kabashima K
  Title
Hedgehog signaling in basal cell carcinoma.
  Journal
J Dermatol Sci 78:95-100 (2015)
DOI:10.1016/j.jdermsci.2015.02.007
Related
pathway
ko04110  Cell cycle
ko04115  p53 signaling pathway
ko04310  Wnt signaling pathway
ko04340  Hedgehog signaling pathway
ko04350  TGF-beta signaling pathway
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