title: Single nucleotide polymorphism in esophageal cancer related gene 1: an analysis in resected oral squamous cell carcinoma patients.
abstract: Esophageal cancer related gene 1 (ECRG1) is a novel candidate tumor suppressor gene in human esophageal squamous cells. Overexpression of ECRG1 protein inhibits tumor cell proliferation. Genetic polymorphisms in coding sequences of the gene may cause functional alterations of the gene product and be associated with higher cancer risk and disease phenotypes. A single nucleotide polymorphism (SNP) (Arg290Gln) found in the coding region of ECRG1 might play a role in susceptibility to esophageal squamous cell carcinoma. This study examined SNPs in ECRG1 in a similar tumor type (oral squamous cell carcinoma; OSCC) and investigated the relationship between SNPs in ECRG1 and the clinical outcome of patients with OSCC. DNA samples of 137 OSCC patients were analyzed for SNP genotypes Arg/Arg, Arg/Gln and Gln/Gln in the coding region (exon 8) of ECRG1. SNP genotypes Arg/Arg were found in 70 (51%), Arg/Gln in 60 (43%) and Gln/Gln in 7 (5%) patients. There was no significant association between genotypes and survival (p=0.77) or relapse free survival (p=0.32). The Gln/Gln genotype had the best survival (not significant) probably due to rare cases of SNP Gln/Gln genotype. Genotype Arg/Arg might be a potential negative prognostic marker in OSCC, but more studies with higher patient numbers are required.
authors.affiliation: Departments of Oral and Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg. blessman@uke.uni-hamburg.de
authors.forename: M
authors.initials: M
authors.lastname: Blessmann
authors.forename: P
authors.initials: P
authors.lastname: Pohlenz
authors.forename: A
authors.initials: A
authors.lastname: Atac
authors.forename: J T
authors.initials: JT
authors.lastname: Kaifi
authors.forename: C
authors.initials: C
authors.lastname: Eulenburg
authors.forename: V
authors.initials: V
authors.lastname: Kalinin
authors.forename: P
authors.initials: P
authors.lastname: Merkert
authors.forename: R
authors.initials: R
authors.lastname: Smeets
authors.forename: M
authors.initials: M
authors.lastname: Heiland
authors.forename: F
authors.initials: F
authors.lastname: Blake
authors.forename: R
authors.initials: R
authors.lastname: Schmelzle
authors.forename: J R
authors.initials: JR
authors.lastname: Izbicki
mesh_terms: D019943:Amino Acid Substitution; D014408:Biomarkers, Tumor / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D018572:Disease-Free Survival; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics*; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D057057:Serine Proteases; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D008565:Membrane Proteins; D011993:Recombinant Fusion Proteins; C446704:TMPRSS11A protein, human; D025521:Tumor Suppressor Proteins; D057057:Serine Proteases