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

SHH (germline, somatic mutation) [HSA:6469] [KO:K11988]
SMO (somatic mutation) [HSA:6608] [KO:K06226]
p53 (mutation) [HSA:7157] [KO:K04451]
PTCH (germline, somatic mutation) [HSA:5727] [KO:K06225]

Drug

Fluorouracil [DR:D00584]
Cemiplimab [DR:D11108]
Vismodegib [DR:D09992]
Sonidegib phosphate [DR:D10729]

Other DBs

ICD-11:

2C32

ICD-10:

C44

MeSH:

D002280

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:14643412

Authors

Rossman TG.

Title

Mechanism of arsenic carcinogenesis: an integrated approach.

Journal

Mutat Res 533:37-65 (2003)
DOI:10.1016/j.mrfmmm.2003.07.009

Reference

PMID:17244035

Authors

Walvekar RR, Kane SV, Nadkarni MS, Bagwan IN, Chaukar DA, D'Cruz AK.

Title

Chronic arsenic poisoning: a global health issue -- a report of multiple primary cancers.

Journal

J Cutan Pathol 34:203-6 (2007)
DOI:10.1111/j.1600-0560.2006.00596.x

Reference

PMID:15701081

Authors

Hussein MR.

Title

Ultraviolet radiation and skin cancer: molecular mechanisms.

Journal

J Cutan Pathol 32:191-205 (2005)
DOI:10.1111/j.0303-6987.2005.00281.x

Reference

PMID:15660110

Authors

Luch A.

Title

Nature and nurture - lessons from chemical carcinogenesis.

Journal

Nat Rev Cancer 5:113-25 (2005)
DOI:10.1038/nrc1546

Reference

PMID:17530489

Authors

Abnet CC.

Title

Carcinogenic food contaminants.

Journal

Cancer Invest 25:189-96 (2007)
DOI:10.1080/07357900701208733

Reference

PMID:9498904

Authors

Boffetta P, Jourenkova N, Gustavsson P.

Title

Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.

Journal

Cancer Causes Control 8:444-72 (1997)
DOI:10.1023/a:1018465507029

Reference

PMID:9498901

Authors

Tolbert PE.

Title

Oils and cancer.

Journal

Cancer Causes Control 8:386-405 (1997)
DOI:10.1023/a:1018409422050

Reference

PMID:16307669

Authors

Takeuchi Y, Tamura A, Kamiya M, Fukuda T, Ishikawa O.

Title

Immunohistochemical analyses of p63 expression in cutaneous tumours.

Journal

Br J Dermatol 153:1230-2 (2005)
DOI:10.1111/j.1365-2133.2005.06952.x

Reference

PMID:15268709

Authors

Park HR, Min SK, Cho HD, Kim KH, Shin HS, Park YE.

Title

Expression profiles of p63, p53, survivin, and hTERT in skin tumors.

Journal

J Cutan Pathol 31:544-9 (2004)
DOI:10.1111/j.0303-6987.2004.00228.x

DISEASE: Basal cell carcinoma