Esophageal Adenocarcinoma Methods and Protocols

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Gene Implications in esophageal adenocarcinoma Ref.

ERBB2 Amplification, substitution, or truncation of receptor tyrosine-protein

kinase (ERBB2) were observed in approximately 23% of patients with

esophageal adenocarcinoma

[ 5 ]

EYA4 Eye absent 4 (EYA4) gene methylation was observed in 83% of esophageal

adenocarcinoma and 77% of BE but only 3% of normal esophageal tissue

and represents a potential candidate marker

[ 35 ]

FGF3/4/19 Amplification of fibroblast growth factor 3/4/19 (FGF3/4/19) was

observed in approximately 12% of patients with esophageal

adenocarcinoma

[ 5 ]

ICAM1 Intercellular Adhesion Molecule 1 (ICAM1) was overexpressed in

esophageal adenocarcinoma compared to normal tissues

[ 34 ]

KRAS Amplification or substitution of V-Ki-ras2 Kirsten rat sarcoma viral

oncogene homolog (KRAS) in approximately 23% of patients with

esophageal adenocarcinoma

[ 5 ]

KRAS amplification due to breakage-fusion-bridge [ 1 ]

MDM2 Mouse double minute 2 homolog (MDM2) amplification was observed in

4% of patients with esophageal adenocarcinoma

[ 36 ]

MDM2 mutation was due to chromothripsis-derived double-minute

chromosome formation or breakage-fusion-bridge

[ 1 ]

MYC MYC (c-Myc) amplification in approximately 16% of patients with

esophageal adenocarcinoma

[ 5 ]

Amplification due to chromothripsis-derived double-minute chromosome

formation

[ 1 ]

RFC3 Amplification of replication factor C (Activator 1) 3 (RFC3) occurred due

to breakage-fusion-bridge

[ 1 ]

SEMA5A Homozygote mutation of semaphorin 5A (SEMA5A) in MFD1 esophageal

adenocarcinoma cell line on chromosome 5 at position 9190519

[ 32 ]

SELENBP1 Expression reduced when Barrett esophagus progresses to esophageal

adenocarcinoma. Overexpression of Selenium Binding Protein 1

(SELENBP1) in Flo-1 cells heightened apoptosis, augmented cellular

senescence, and boosted cisplatin cytotoxicity, indicating its possible

significance as predictor of response towards chemoprevention or

chemosensitization with certain types of selenium in esophageal

adenocarcinoma

[ 8 ]

SMAD4 SMAD family member 4 (SMAD4) mutated in 13% of patients with

esophageal adenocarcinoma

[ 2 , 5 ]

Antiproliferative response was re-established with reactivation of transient

transfection of SMAD4

[ 37 ]

SPG20 Spartin (SPG20) is mutated in 7% of esophageal adenocarcinoma [ 3 ]

Table 1
(continued)

(continued)

Single Gene Mutation in Esophageal Adenocarcinoma