| H00039 | |
| H番号 | 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 疾患パスウェイ hsa05217(N00062) 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | フルオロウラシル [DR:D00584] |
| コメント | - |
| リンク | ICD-11: 2C32 ICD-10: C44 MeSH: D002280 OMIM: 605462 614740 |
| 文献 | PMID:15978322 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 PMID:16541145 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 PMID:15468170 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 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 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 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 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 |