| H00039 | |
| H number | H00039 |
| 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 DIS_PATHWAY hsa05217(N00062) 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Fluorouracil [DR:D00584] Cemiplimab [DR:D11108] Vismodegib [DR:D09992] Sonidegib phosphate [DR:D10729] |
| Comment | - |
| Other DBs | ICD-11: 2C32 ICD-10: C44 MeSH: D002280 OMIM: 605462 614740 |
| Reference | PMID:15978322 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 PMID:16541145 AUTHORS Khavari PA. TITLE Modelling cancer in human skin tissue. JOURNAL Nat Rev Cancer 6:270-80 (2006) DOI:10.1038/nrc1838 PMID:15468170 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 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 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 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 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 |