Entry Name Basal cell carcinoma - Peromyscus leucopus (white-footed mouse)
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 typesBRITE hierarchy
Pathway map Disease Organism Peromyscus leucopus (white-footed mouse) [GN:
pleu ]
Gene 114683308 Dvl3; segment polarity protein dishevelled homolog DVL-3 isoform X1 [KO:K02353 ]
114684081 Apc2; LOW QUALITY PROTEIN: adenomatous polyposis coli protein 2 [KO:K02085 ]
114688301 Gadd45b; growth arrest and DNA damage-inducible protein GADD45 beta [KO:K04402 ]
114689482 Gadd45g; growth arrest and DNA damage-inducible protein GADD45 gamma [KO:K04402 ]
114693209 Dvl2; LOW QUALITY PROTEIN: segment polarity protein dishevelled homolog DVL-2 [KO:K02353 ]
114700921 Gadd45a; growth arrest and DNA damage-inducible protein GADD45 alpha [KO:K04402 ]
114708251 Dvl1; segment polarity protein dishevelled homolog DVL-1 isoform X1 [KO:K02353 ]
114709388 Ptch2; LOW QUALITY PROTEIN: protein patched homolog 2 [KO:K11101 ]
Compound Reference Authors Tilli CM, Van Steensel MA, Krekels GA, Neumann HA, Ramaekers FC.
Title Molecular aetiology and pathogenesis of basal cell carcinoma.
Journal Reference Authors Saldanha G, Fletcher A, Slater DN.
Title Basal cell carcinoma: a dermatopathological and molecular biological update.
Journal Reference Authors Daya-Grosjean L, Couve-Privat S.
Title Sonic hedgehog signaling in basal cell carcinomas.
Journal Reference Authors Tsai KY, Tsao H.
Title The genetics of skin cancer.
Journal Reference Authors Athar M, Tang X, Lee JL, Kopelovich L, Kim AL.
Title Hedgehog signalling in skin development and cancer.
Journal Reference Authors Rubin AI, Chen EH, Ratner D.
Title Basal-cell carcinoma.
Journal 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 Reference Authors Pasca di Magliano M, Hebrok M.
Title Hedgehog signalling in cancer formation and maintenance.
Journal 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 Reference Authors Cohen MM Jr.
Title The hedgehog signaling network.
Journal Reference Authors Yamazaki F, Aragane Y, Kawada A, Tezuka T.
Title Immunohistochemical detection for nuclear beta-catenin in sporadic basal cell carcinoma.
Journal 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 Reference Authors Toftgard R.
Title Hedgehog signalling in cancer.
Journal Reference Authors Wu F, Zhang Y, Sun B, McMahon AP, Wang Y
Title Hedgehog Signaling: From Basic Biology to Cancer Therapy.
Journal Reference Authors Otsuka A, Levesque MP, Dummer R, Kabashima K
Title Hedgehog signaling in basal cell carcinoma.
Journal Related KO pathway
