KEGG DISEASE: Basal cell carcinoma

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 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
Cellular process
  nt06546  IgSF CAM signaling
   H00039  Basal cell carcinoma
Cancer-associated carbohydrates [br08441.html]
H00039

Disease
pathway

hsa05217

Basal cell carcinoma

Pathway

hsa04517

IGSF CAM signaling

Network

nt06269 Basal cell carcinoma
nt06501 HH signaling
nt06546 IgSF CAM 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

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

Reference

PMID:16541145

Authors

Khavari PA.

Title

Modelling cancer in human skin tissue.

Journal

Nat Rev Cancer 6:270-80 (2006)
DOI:10.1038/nrc1838

Reference

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

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

LinkDB

» Japanese version

DISEASE: Capillary malformation-arteriovenous malformation

Entry

H02043                      Disease

Name

Capillary malformation-arteriovenous malformation

Description

Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association with AVMs or fistulas (AVF). CMs in this syndrome usually present at birth, and are progressive, round to oval, pink or red, and with a pale halo.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    LA90  Structural developmental anomalies of the peripheral vascular system
     H02043  Capillary malformation-arteriovenous malformation
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H02043  Capillary malformation-arteriovenous malformation
Cellular process
  nt06546  IgSF CAM signaling
   H02043  Capillary malformation-arteriovenous malformation

Pathway

hsa04010

MAPK signaling pathway

hsa04517

IGSF CAM signaling

Network

nt06526 MAPK signaling
nt06546 IgSF CAM signaling

Gene

(CMAVM1) RASA1 [HSA:5921] [KO:K04352]
(CMAVM2) EPHB4 [HSA:2050] [KO:K05113]

Other DBs

ICD-11:

LA90.3Y

MeSH:

C564254

OMIM:

608354 618196

Reference

PMID:14639529

Authors

Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M

Title

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Journal

Am J Hum Genet 73:1240-9 (2003)
DOI:10.1086/379793

Reference

PMID:24168113

Authors

Larralde M, Abad ME, Luna PC, Hoffner MV

Title

Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.

Journal

Int J Dermatol 53:458-61 (2014)
DOI:10.1111/ijd.12040

Reference

PMID:28687708

Authors

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, Gonzalez-Ensenat MA, Frieden I, Gerard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Leaute-Labreze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M

Title

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Journal

Circulation 136:1037-1048 (2017)
DOI:10.1161/CIRCULATIONAHA.116.026886

LinkDB

» Japanese version

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