DR-384 The influence of the germline deletion polymorphism of chromosome 8 (ADAM3A/ADAM5 locus) on the expression of genes and pathways involved in carcinogenesis

Our data from 218 patients with esophageal adenocarcinoma (EAC) , treated with neo-adjuvant chemoradiotherapy (CROSS schema), show a worse prognosis in patients who present with a homozygous germline deletion polymorphism of the ADAM3A/ADAM5 gene locus. In this study we would like to get a mechanistic insight in to how this germline deletion polymorphism can lead to a poor prognosis by effecting the expression of other genes and pathways involved in carcinogenesis. We don’t know if the putative expression quantitative trait locus (eQTL) is (tumor)tissue specific, therefore we will perform eQTL analysis to asses relationship between the genotype of the overall survival risk locus (ADAM3A/ADAM5) with expression of nearby genes in EAC and other cancer patients grouped per tumor type.

Roelof Koster, Stichting Het Nederlands Kanker Instituut – Antoni van Leeuwenhoek Ziekenhuis, the Netherlands