Analysis of Sciellin (SCEL) as a candidate gene in esophageal squamous cell carcinoma.
BACKGROUND
The aim of this study was to investigate whether a candidate gene, Sciellin (SCEL), mapping to the chromosome 13q21-q31 is mutated in esophageal cancer.


METHODS
The coding region and intron-exon junctions of SCEL were sequenced in 13 esophageal squamous cell cancers and matching normal esophageal samples to detect mutations.


RESULTS
Three single nucleotide polymorphisms were detected in SCEL of which two were silent mutations (L640L and H654H) and one missense mutation (R366K).


CONCLUSIONS
Single nucleotide polymorphisms were detected in both matching tumor and normal esophageal tissues but no disease-associated mutations suggesting that SCEL is not a major factor in esophageal squamous cell carcinogenesis.
Corona
Winston
W
Oncology Section, Department of Veterans Affairs Medical Center, Washington, DC 20422, USA.
Karkera
Deepa J
DJ
Patterson
Robert H
RH
Saini
Nirmal
N
Trachiotis
Gregory D
GD
Korman
Louis Y
LY
Liu
Benita
B
Alexander
Edmund P
EP
De la Pena
Arturo S
AS
Marcelo
Alvin B
AB
Wadleigh
Robert
R
D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000473:pathology; D005091:Exons; D006801:Humans; D007438:Introns; D009154:Mutation; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide
D002352:Carrier Proteins; C111281:SCEL protein, human