KEGG   DISEASE: Esophageal cancer
Entry
H00017                      Disease                                
Name
Esophageal cancer
Description
Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ESCC) and adenocarcinoma (EAC). ESCC is the most frequent histological subtype in esophageal cancer, although the incidence of EAC is increasing faster than any other malignancy in the western world. Whereas ESCC can be attributed to alcohol and tobacco consumption, the most important risk factor for the development of EAC is duodenal-gastric-esophageal reflux. In the process of tumorigenesis at the cellular level, multiple genetic alterations are involved, including mutation of the p53 gene, amplification of cyclin D1 gene, among others.
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 digestive organs
     2B70  Malignant neoplasms of oesophagus
      H00017  Esophageal cancer
Pathway
hsa04110  Cell cycle
hsa04218  Cellular senescence
Gene
EGFR (overexpression) [HSA:1956] [KO:K04361]
PTGS2 (overexpression) [HSA:5743] [KO:K11987]
NOS2 (increased expression) [HSA:4843] [KO:K13241]
FAS (increased expression) [HSA:355] [KO:K04390]
CCND1 (amplification) [HSA:595] [KO:K04503]
TP53 [HSA:7157] [KO:K04451]
CDKN2A [HSA:1029] [KO:K06621]
RB1 [HSA:5925] [KO:K06618]
APC [HSA:324] [KO:K02085]
DCC [HSA:1630] [KO:K06765]
LZTS1 [HSA:11178] [KO:K26460]
RNF6 [HSA:6049] [KO:K22753]
TGFBR2 [HSA:7048] [KO:K04388]
WWOX [HSA:51741] [KO:K19329]
Drug
Capecitabine [DR:D01223]
Floxuridine [DR:D04197]
Nivolumab [DR:D10316]
Pembrolizumab [DR:D10574] (PD-L1 expressed)
Tislelizumab [DR:D11487]
Porfimer sodium [DR:D03327]
Other DBs
ICD-11: 2B70
ICD-10: C15
MeSH: D004938
OMIM: 133239
Reference
PMID:15622457 (EGFR, TP53, PTGS2, NOS2, CCND1, CDKN2A, RB1)
  Authors
Kuwano H, Kato H, Miyazaki T, Fukuchi M, Masuda N, Nakajima M, Fukai Y, Sohda M, Kimura H, Faried A.
  Title
Genetic alterations in esophageal cancer.
  Journal
Surg Today 35:7-18 (2005)
DOI:10.1007/s00595-004-2885-3
Reference
PMID:12951586 (APC, CDKN2A, NOS2, RB1, PTGS2, TP53, RB1, EGFR, FAS)
  Authors
Wild CP, Hardie LJ.
  Title
Reflux, Barrett's oesophagus and adenocarcinoma: burning questions.
  Journal
Nat Rev Cancer 3:676-84 (2003)
DOI:10.1038/nrc1166
Reference
PMID:15914317 (CCND1, TP53, RB1, CDKN2A, APC, WWOX, FAS)
  Authors
McCabe ML, Dlamini Z.
  Title
The molecular mechanisms of oesophageal cancer.
  Journal
Int Immunopharmacol 5:1113-30 (2005)
DOI:10.1016/j.intimp.2004.11.017
Reference
PMID:8187090 (DCC)
  Authors
Miyake S, Nagai K, Yoshino K, Oto M, Endo M, Yuasa Y
  Title
Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis.
  Journal
Cancer Res 54:3007-10 (1994)
Reference
PMID:11504921 (LZTS1)
  Authors
Ishii H, Vecchione A, Murakumo Y, Baldassarre G, Numata S, Trapasso F, Alder H, Baffa R, Croce CM
  Title
FEZ1/LZTS1 gene at 8p22 suppresses cancer cell growth and regulates mitosis.
  Journal
Proc Natl Acad Sci U S A 98:10374-9 (2001)
DOI:10.1073/pnas.181222898
Reference
PMID:12154016 (RNF6)
  Authors
Lo HS, Hu N, Gere S, Lu N, Su H, Goldstein AM, Taylor PR, Lee MP
  Title
Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma.
  Journal
Cancer Res 62:4191-3 (2002)
Reference
PMID:10789724 (TGFBR2)
  Authors
Tanaka S, Mori M, Mafune K, Ohno S, Sugimachi K
  Title
A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.
  Journal
Br J Cancer 82:1557-60 (2000)
DOI:10.1054/bjoc.1999.1178
Reference
PMID:11956080 (WWOX)
  Authors
Kuroki T, Trapasso F, Shiraishi T, Alder H, Mimori K, Mori M, Croce CM
  Title
Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma.
  Journal
Cancer Res 62:2258-60 (2002)

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