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.
Oncology Section, Department of Veterans Affairs Medical Center, Washington, DC 20422, USA.
Winston
W
Corona
Deepa J
DJ
Karkera
Robert H
RH
Patterson
Nirmal
N
Saini
Gregory D
GD
Trachiotis
Louis Y
LY
Korman
Benita
B
Liu
Edmund P
EP
Alexander
Arturo S
AS
De la Pena
Alvin B
AB
Marcelo
Robert
R
Wadleigh
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