Entry 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 typesBRITE hierarchy
Pathway map Disease Orthology K00182 WNT2; wingless-type MMTV integration site family, member 2
K00312 WNT3; wingless-type MMTV integration site family, member 3
K00408 WNT4; wingless-type MMTV integration site family, member 4
K00444 WNT5; wingless-type MMTV integration site family, member 5
K00445 WNT6; wingless-type MMTV integration site family, member 6
K00572 WNT7; wingless-type MMTV integration site family, member 7
K00714 WNT8; wingless-type MMTV integration site family, member 8
K01064 WNT9; wingless-type MMTV integration site family, member 9
K01357 WNT10; wingless-type MMTV integration site family, member 10
K01384 WNT11; wingless-type MMTV integration site family, member 11
K01558 WNT16; wingless-type MMTV integration site family, member 16
K02085 APC; adenomatosis polyposis coli protein
K02159 BAX; apoptosis regulator BAX
K02353 DVL; segment polarity protein dishevelled
K02354 FZD4, fz4, CD344; frizzled 4
K02375 FZD5_8, fz2; frizzled 5/8
K02432 FZD1_7, fz; frizzled 1/7
K02620 TCF7, TCF-1; transcription factor 7
K02842 FZD9_10, CD349_50; frizzled 9/10
K03209 WNT1; wingless-type MMTV integration site family, member 1
K04402 GADD45; growth arrest and DNA-damage-inducible protein
K04451 TP53, P53; tumor protein p53
K04490 TCF7L1; transcription factor 7-like 1
K04491 TCF7L2; transcription factor 7-like 2
K04492 LEF1; lymphoid enhancer-binding factor 1
K04662 BMP4; bone morphogenetic protein 4
K06229 SUFU; suppressor of fused
K06230 GLI3; zinc finger protein GLI3
K06231 HHIP; hedgehog interacting protein
K06625 CDKN1A, P21, CIP1; cyclin-dependent kinase inhibitor 1A
K10140 DDB2; DNA damage-binding protein 2
K14021 BAK, BAK1; Bcl-2 homologous antagonist/killer
K16797 GLI1; zinc finger protein GLI1
K16798 GLI2; zinc finger protein GLI2
K18806 KIF7; kinesin family member 7
K21283 BMP2; bone morphogenetic protein 2
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.
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