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Molecular Pathology of
Esophageal Cancer
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Region Incidence Overall Incidence Males Incidence Females Deaths Overall Deaths Males Deaths Females
USA 16640 13130 3510 14500 11650 2850

Affected Protein Pathway Sub-Type Ethnicity Stage Frequency (%) Gene Amplification Activating Mutation Inactivating Mutation Deletion Promoter Hypermethylation Comment  
APC (adenomatosis polyposis coli) WNT Signaling
EAC 68-92%
APC (adenomatosis polyposis coli) WNT Signaling
SCC 50%
BRAF Ras Signal Transduction Pathway
Adenocarcinoma 11%
C-Myc Cell Cycle Regulation
EAC (esophageal adenocarcinoma) 25%
C2orf40 (ECRG4) SCC 80%
CADM1 (TSLC1) Cell-cell adhesion
SCC 50% loss of expression
CHFR SCC and EAC 16%
DAPK (Death-Associated Protein Kinase) Apoptosis regulation
78%
E-Cadherin (CDH1) Cell-cell adhesion
EAC and SCC, respectively 66-84% and 80%
EGFR (ErbB-1 receptor) Receptor Tyrosine Kinase Signaling
EAC 19%
ErbB-2 (Her2/neu) Receptor Tyrosine Kinase Signaling
squamous cell carcinoma 19%
ESR1 (Estrogen receptor alpha) EAC 51%
EYA4 EAC 83%
H-cadherin (CDH13) Cell-cell adhesion
SCC + EAC 14%
HLA-C (HLA class I) SCC 45%
KRAS Ras Signal Transduction Pathway
Adenocarcinoma 21%
MDM2 p53 Tumor Suppressor Pathway
esophageal carcinoma 13 - 18%
MGMT DNA-Repair
SCC and EAC, respectively 39 and 56%
p14ARF (CDKN2A) p53 Tumor Suppressor Pathway
SCC 33%
p14ARF (CDKN2A) p53 Tumor Suppressor Pathway
SCC 15% not found in EAC
p15INK4b (CDKN2B) Cell Cycle Regulation
SCC 40%
p15INK4b (CDKN2B) Cell Cycle Regulation
SCC 13-18%
p16INK4a (CDKN2A) Cell Cycle Regulation
esophageal adenocarcinoma (EAC) 39-54%
p16INK4a (CDKN2A) Cell Cycle Regulation
SCC 18%
p16INK4a (CDKN2A) Cell Cycle Regulation
squamous cell carcinoma (SCC) 40-64%
p53 p53 Tumor Suppressor Pathway
30 %
RARbeta (retinoid acid receptor, beta) Transcriptional regulation
SCC 70%
RASSF1A (Ras-association domain family 1) Cell Cycle Regulation
primary SCC 34-51%
RB1 Cell Cycle Regulation
EAC 33%
SFRP1 (secreted frizzled related protein 1) WNT Signaling
EAC 93%
TIMP3 EAC 19 - 90%
UCHL1 (PGP9.5) SCC 42%
VHL Protein Degradation
SCC 13%

See Clinical Trials in in the TTC Database
CANCER.GOV PDQ® - Standard Treatments for Esophageal Cancer