KEGG   PATHWAY: hsa05217Help
Entry
hsa05217                    Pathway                                

Name
Basal cell carcinoma - Homo sapiens (human)
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; Cancers
BRITE hierarchy
Pathway map
Basal cell carcinoma
hsa05217

All organismsOrtholog table
Module
Hedgehog signaling [PATH:hsa05217]
Disease
H00039  
Basal cell carcinoma
H00895  
Basal cell nevus syndrome
Drug
D10119  
Sonidegib (USAN/INN)
D10729  
Sonidegib phosphate (USAN)
Organism
Homo sapiens (human) [GN:hsa]
Gene
7157  
TP53; tumor protein p53 [KO:K04451]
6469  
SHH; sonic hedgehog [KO:K11988]
5727  
PTCH1; patched 1 [KO:K06225]
6608  
SMO; smoothened, frizzled class receptor [KO:K06226]
27148  
STK36; serine/threonine kinase 36 [KO:K06228] [EC:2.7.11.1]
51684  
SUFU; SUFU negative regulator of hedgehog signaling [KO:K06229]
2735  
GLI1; GLI family zinc finger 1 [KO:K16797]
2736  
GLI2; GLI family zinc finger 2 [KO:K16798]
2737  
GLI3; GLI family zinc finger 3 [KO:K06230]
650  
BMP2; bone morphogenetic protein 2 [KO:K04662]
652  
BMP4; bone morphogenetic protein 4 [KO:K04662]
64399  
HHIP; hedgehog interacting protein [KO:K06231]
8643  
PTCH2; patched 2 [KO:K11101]
7471  
WNT1; Wnt family member 1 [KO:K03209]
7472  
WNT2; Wnt family member 2 [KO:K00182]
7482  
WNT2B; Wnt family member 2B [KO:K00182]
7473  
WNT3; Wnt family member 3 [KO:K00312]
89780  
WNT3A; Wnt family member 3A [KO:K00312]
54361  
WNT4; Wnt family member 4 [KO:K00408]
7474  
WNT5A; Wnt family member 5A [KO:K00444]
81029  
WNT5B; Wnt family member 5B [KO:K00444]
7475  
WNT6; Wnt family member 6 [KO:K00445]
7476  
WNT7A; Wnt family member 7A [KO:K00572]
7477  
WNT7B; Wnt family member 7B [KO:K00572]
7478  
WNT8A; Wnt family member 8A [KO:K00714]
7479  
WNT8B; Wnt family member 8B [KO:K00714]
7483  
WNT9A; Wnt family member 9A [KO:K01064]
7484  
WNT9B; Wnt family member 9B [KO:K01064]
7480  
WNT10B; Wnt family member 10B [KO:K01357]
80326  
WNT10A; Wnt family member 10A [KO:K01357]
7481  
WNT11; Wnt family member 11 [KO:K01384]
51384  
WNT16; Wnt family member 16 [KO:K01558]
8321  
FZD1; frizzled class receptor 1 [KO:K02432]
8324  
FZD7; frizzled class receptor 7 [KO:K02432]
2535  
FZD2; frizzled class receptor 2 [KO:K02235]
7976  
FZD3; frizzled class receptor 3 [KO:K02329]
8322  
FZD4; frizzled class receptor 4 [KO:K02354]
7855  
FZD5; frizzled class receptor 5 [KO:K02375]
8325  
FZD8; frizzled class receptor 8 [KO:K02375]
8323  
FZD6; frizzled class receptor 6 [KO:K02376]
11211  
FZD10; frizzled class receptor 10 [KO:K02842]
8326  
FZD9; frizzled class receptor 9 [KO:K02842]
1857  
DVL3; dishevelled segment polarity protein 3 [KO:K02353]
1856  
DVL2; dishevelled segment polarity protein 2 [KO:K02353]
1855  
DVL1; dishevelled segment polarity protein 1 [KO:K02353]
2932  
GSK3B; glycogen synthase kinase 3 beta [KO:K03083] [EC:2.7.11.26]
8312  
AXIN1; axin 1 [KO:K02157]
8313  
AXIN2; axin 2 [KO:K04385]
324  
APC; APC, WNT signaling pathway regulator [KO:K02085]
10297  
APC2; APC2, WNT signaling pathway regulator [KO:K02085]
1499  
CTNNB1; catenin beta 1 [KO:K02105]
6932  
TCF7; transcription factor 7 (T-cell specific, HMG-box) [KO:K02620]
83439  
TCF7L1; transcription factor 7 like 1 [KO:K04490]
6934  
TCF7L2; transcription factor 7 like 2 [KO:K04491]
51176  
LEF1; lymphoid enhancer binding factor 1 [KO:K04492]
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)
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)
Reference
  Authors
Daya-Grosjean L, Couve-Privat S.
  Title
Sonic hedgehog signaling in basal cell carcinomas.
  Journal
Cancer Lett 225:181-92 (2005)
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)
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)
Reference
  Authors
Rubin AI, Chen EH, Ratner D.
  Title
Basal-cell carcinoma.
  Journal
N Engl J Med 353:2262-9 (2005)
Reference
  Authors
Saldanha G.
  Title
The Hedgehog signalling pathway and cancer.
  Journal
J Pathol 193:427-32 (2001)
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)
Reference
  Authors
Pasca di Magliano M, Hebrok M.
  Title
Hedgehog signalling in cancer formation and maintenance.
  Journal
Nat Rev Cancer 3:903-11 (2003)
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)
Reference
  Authors
Cohen MM Jr.
  Title
The hedgehog signaling network.
  Journal
Am J Med Genet A 123:5-28 (2003)
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)
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)
Reference
  Authors
Toftgard R.
  Title
Hedgehog signalling in cancer.
  Journal
Cell Mol Life Sci 57:1720-31 (2000)
KO pathway
 

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