KEGG   DISEASE: Basal cell carcinoma
Entry
H00039                      Disease                                
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.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Skin cancers
   H00039  Basal cell carcinoma
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
Cancer-associated carbohydrates [br08441.html]
 H00039
Pathway
hsa05217  Basal cell carcinoma
Network
nt06269  Basal cell carcinoma
nt06501  HH signaling
Gene
(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]
Drug
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
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
Khavari PA.
  Title
Modelling cancer in human skin tissue.
  Journal
Nat Rev Cancer 6:270-80 (2006)
DOI:10.1038/nrc1838
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
PMID:9422511 (SMO)
  Authors
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
  Title
Activating Smoothened mutations in sporadic basal-cell carcinoma.
  Journal
Nature 391:90-2 (1998)
DOI:10.1038/34201
Reference
PMID:8782823 (PTCH1 PTCH2)
  Authors
Gailani MR, Stahle-Backdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, Pressman C, Unden AB, Dean M, Brash DE, Bale AE, Toftgard R
  Title
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.
  Journal
Nat Genet 14:78-81 (1996)
DOI:10.1038/ng0996-78
Reference
PMID:8275088 (RASA1)
  Authors
Friedman E, Gejman PV, Martin GA, McCormick F
  Title
Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours.
  Journal
Nat Genet 5:242-7 (1993)
DOI:10.1038/ng1193-242
Reference
PMID:21946351 (TP53)
  Authors
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
  Title
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
  Journal
Nat Genet 43:1098-103 (2011)
DOI:10.1038/ng.926

» Japanese version

DBGET integrated database retrieval system