TY - JOUR T1 - The AA Genotype of a <em>L1C</em> G842A Polymorphism Is Associated with an Increased Risk for Ovarian Cancer JF - Anticancer Research JO - Anticancer Res SP - 3449 LP - 3452 VL - 29 IS - 8 AU - MARTIN HEUBNER AU - PAULINE WIMBERGER AU - SABINE KASIMIR-BAUER AU - FRIEDRICH OTTERBACH AU - RAINER KIMMIG AU - WINFRIED SIFFERT Y1 - 2009/08/01 UR - http://ar.iiarjournals.org/content/29/8/3449.abstract N2 - Background: Recent studies proposed L1CAM (L1 cell adhesion molecule) expression as a negative prognostic marker in epithelial ovarian cancer (EOC). The gene L1C was screened for single nucleotide polymorphisms (SNPs) which could impact upon EOC risk or disease progression. Patients and Methods: Overlapping DNA fragments, including the promoter region, intron 1 and all the exons of 10 healthy volunteers were analyzed to detect SNPs. EOC patients (n=103) and age-matched controls (n=104) were subsequently genotyped by restriction fragment length polymorphism (RFLP). Quantitative real-time PCR was carried out to detect potential associations of SNPs with L1C mRNA expression. Results: One SNP was found in intron 1 (L1C G842A). Genotyping of the EOC patients and age-matched controls revealed an association of EOC with the homozygous AA genotype (OR 7.4, CI 1.6-33.5; p=0.003). The L1C mRNA expression levels and clinical parameters did not differ significantly between the L1C G842A genotypes. Conclusion: The L1C 842 AA genotype may be a predisposing factor for EOC. ER -