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tissue. Similarly, increased methylation of cyclin-dependent kinase
inhibitor 2A (CDKN2A) depends on the pathological stage of
esophageal adenocarcinoma [ 7 ], from none in normal epithelial
tissue to 82% in esophageal adenocarcinoma (Table 1 ).
Furthermore, loss of heterozygosity (LOH) of CDKN2A (Table 1 )
was observed in more than 50% of both esophageal adenocarci-
noma and premalignant lesions [ 7 ].
Meanwhile, Selenium Binding Protein 1 (SELENBP1) and
SMAD family member 4 (SMAD4) mutation provides a clearer
genetic distinction between esophageal adenocarcinoma and
high-grade dysplasia. SELENBP1 was reduced in esophageal ade-Table 1
Gene mutations found in esophageal adenocarcinoma discovered through sequencing
Gene Implications in esophageal adenocarcinoma Ref.ABCB1 Heterozygote mutation of ATP Binding Cassette Subfamily B Member 1
(ABCB1) in MFD1 esophageal adenocarcinoma cell line on chromosome
7 at position 87179790 and 87150168[ 32 ]ARID1A Mutations of AT-rich interaction domain 1A (ARID1A) were detected in
15% of esophageal adenocarcinoma. Knockdown of AIRD1A enhanced
cell growth, proliferation, and invasion; and was associated with nuclear
accumulation of p53[ 33 ]CCND1 Amplification of cyclin D1 (CCND1) in approximately 13% of patients with
esophageal adenocarcinoma[ 5 ]CDH11 Overexpression of cadherin 11 (CDH11) in esophageal adenocarcinoma
compared to normal tissues[ 34 ]CDKN2A Substitution, gene homozygous deletion, or truncation of cyclin-dependent
kinase inhibitor 2A (CDKN2A) gene were observed in approximately in
32% of patients with esophageal adenocarcinoma[ 5 ]Methylation of CDKN2A was observed in 82% of esophageal
adenocarcinoma cases, 30% in premalignant lesions but not in normal
esophageal squamous cell epithelium. Methylation of CDKN2A results
in p16 inactivation. LOH at CDKN2A was found in 68% of esophageal
adenocarcinoma and 55% of premalignant lesions[ 7 ]CLDN3 Claudin 3 (CLDN3) was overexpressed in esophageal adenocarcinoma
compared to normal tissues[ 34 ]E-cadherin Lower expression was associated with less preferable pathological
parameters and poorer patient survival. Mutations were uncommon[ 21 ]EGFR Substitution, amplification, or truncation of epidermal growth factor
receptor (EGFR) were observed in approximately 14% of patients with
esophageal adenocarcinoma[ 5 ](continued)Katherine T. W. Lee et al.