KEGG   DISEASE: Basal cell carcinoma
H00039                      Disease                                
Basal cell carcinoma
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.
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of skin
     2C32  Basal cell carcinoma of skin
      H00039  Basal cell carcinoma
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06526  MAPK signaling
   H00039  Basal cell carcinoma
  nt06501  HH signaling
   H00039  Basal cell carcinoma
Cancer-associated carbohydrates [br08441.html]
hsa05217  Basal cell carcinoma
nt06269 Basal cell carcinoma
nt06501 HH signaling
(BCC1) SMO [HSA:6608] [KO:K06226]
(BCC1) PTCH1 [HSA:5727] [KO:K06225]
(BCC1) PTCH2 [HSA:8643] [KO:K11101]
(BCC1) RASA1 [HSA:5921] [KO:K04352]
(BCC7) TP53 [HSA:7157] [KO:K04451]
Fluorouracil [DR:D00584]
Cemiplimab [DR:D11108]
Vismodegib [DR:D09992]
Sonidegib phosphate [DR:D10729]
Other DBs
ICD-11: 2C32
ICD-10: C44
MeSH: D002280
OMIM: 605462 614740
Daya-Grosjean L, Couve-Privat S.
Sonic hedgehog signaling in basal cell carcinomas.
Cancer Lett 225:181-92 (2005)
Khavari PA.
Modelling cancer in human skin tissue.
Nat Rev Cancer 6:270-80 (2006)
Tsai KY, Tsao H.
The genetics of skin cancer.
Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
PMID:9422511 (SMO)
Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, Bonifas JM, Lam CW, Hynes M, Goddard A, Rosenthal A, Epstein EH Jr, de Sauvage FJ
Activating Smoothened mutations in sporadic basal-cell carcinoma.
Nature 391:90-2 (1998)
PMID:8782823 (PTCH1 PTCH2)
Gailani MR, Stahle-Backdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, Pressman C, Unden AB, Dean M, Brash DE, Bale AE, Toftgard R
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.
Nat Genet 14:78-81 (1996)
PMID:8275088 (RASA1)
Friedman E, Gejman PV, Martin GA, McCormick F
Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours.
Nat Genet 5:242-7 (1993)
PMID:21946351 (TP53)
Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, Magnusson OT, Gudjonsson SA, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Nexo BA, Tjonneland A, Overvad K, Rudnai P, Gurzau E, Koppova K, Hemminki K, Corredera C, Fuentelsaz V, Grasa P, Navarrete S, Fuertes F, Garcia-Prats MD, Sanambrosio E, Panadero A, De Juan A, Garcia A, Rivera F, Planelles D, Soriano V, Requena C, Aben KK, van Rossum MM, Cremers RG, van Oort IM, van Spronsen DJ, Schalken JA, Peters WH, Helfand BT, Donovan JL, Hamdy FC, Badescu D, Codreanu O, Jinga M, Csiki IE, Constantinescu V, Badea P, Mates IN, Dinu DE, Constantin A, Mates D, Kristjansdottir S, Agnarsson BA, Jonsson E, Barkardottir RB, Einarsson GV, Sigurdsson F, Moller PH, Stefansson T, Valdimarsson T, Johannsson OT, Sigurdsson H, Jonsson T, Jonasson JG, Tryggvadottir L, Rice T, Hansen HM, Xiao Y, Lachance DH, O Neill BP, Kosel ML, Decker PA, Thorleifsson G, Johannsdottir H, Helgadottir HT, Sigurdsson A, Steinthorsdottir V, Lindblom A, Sandler RS, Keku TO, Banasik K, Jorgensen T, Witte DR, Hansen T, Pedersen O, Jinga V, Neal DE, Catalona WJ, Wrensch M, Wiencke J, Jenkins RB, Nagore E, Vogel U, Kiemeney LA, Kumar R, Mayordomo JI, Olafsson JH, Kong A, Thorsteinsdottir U, Rafnar T, Stefansson K
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
Nat Genet 43:1098-103 (2011)

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