KEGG   DISEASE: 基底細胞癌
エントリ  
H00039                                                             
名称    
基底細胞癌
概要    
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.
カテゴリ  
がん
階層分類  
ヒト疾患 [BR:jp08402]
 がん
  皮膚がん
   H00039  基底細胞癌
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  悪性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織の原発腫瘍を除く
   悪性腫瘍, 原発性と確定または推定されるもの, 明示された部位のもの, ただしリンパ, 造血, 中枢神経系, 関連組織を除く
    皮膚の悪性腫瘍
     2C32  皮膚の基底細胞癌
      H00039  基底細胞癌
疾患パスウェイ
hsa05217  基底細胞癌
ネットワーク
nt06269 Basal cell carcinoma
nt06501 HH signaling
病因遺伝子 
(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]
治療薬   
フルオロウラシル [DR:D00584]
リンク   
ICD-11: 2C32
ICD-10: C44
MeSH: D002280
OMIM: 605462 614740
文献    
  著者
Daya-Grosjean L, Couve-Privat S.
  タイトル
Sonic hedgehog signaling in basal cell carcinomas.
  雑誌
Cancer Lett 225:181-92 (2005)
DOI:10.1016/j.canlet.2004.10.003
文献    
  著者
Khavari PA.
  タイトル
Modelling cancer in human skin tissue.
  雑誌
Nat Rev Cancer 6:270-80 (2006)
DOI:10.1038/nrc1838
文献    
  著者
Tsai KY, Tsao H.
  タイトル
The genetics of skin cancer.
  雑誌
Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
DOI:10.1002/ajmg.c.30037
文献    
PMID:9422511 (SMO)
  著者
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
  タイトル
Activating Smoothened mutations in sporadic basal-cell carcinoma.
  雑誌
Nature 391:90-2 (1998)
DOI:10.1038/34201
文献    
PMID:8782823 (PTCH1 PTCH2)
  著者
Gailani MR, Stahle-Backdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, Pressman C, Unden AB, Dean M, Brash DE, Bale AE, Toftgard R
  タイトル
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.
  雑誌
Nat Genet 14:78-81 (1996)
DOI:10.1038/ng0996-78
文献    
PMID:8275088 (RASA1)
  著者
Friedman E, Gejman PV, Martin GA, McCormick F
  タイトル
Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours.
  雑誌
Nat Genet 5:242-7 (1993)
DOI:10.1038/ng1193-242
文献    
PMID:21946351 (TP53)
  著者
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
  タイトル
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
  雑誌
Nat Genet 43:1098-103 (2011)
DOI:10.1038/ng.926
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