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Approved research

Systematic identification into the genetic basis of malignancies affecting the upper gastrointestinal tract

Principal Investigator: Dr Johannes Schumacher
Approved Research ID: 34390
Approval date: January 9th 2019

Lay summary

Over recent decades, there has been a dramatic increase in the incidence of malignancies affecting the upper gastrointestinal tract, including Barrett oesophagus (BO), oesophageal adenocarcinoma (OAC), and gastric cancer (GC). These conditions share common molecular features, as they emerge through chronic inflammations, leading to a change of epithelial cell types into intestinal metaplasia. However, not much is known about shared genetic risk factors. Within the proposed research we therefore aim to investigate genetic risk factors of BO, OAC and GC, as well as gastro-oesophageal reflux, a major risk factor for BO. Finally, we aim to provide systematic insights into the shared genetic aetiologies of upper GI disorders. The prevention of BO, OAC and GC are growing public health concerns. For example, OAC represents one of the fastest rising cancers in high-income countries. Our proposal aims to examine genetic risk factors and genetic correlations for BO, OAC and GC. The exploration of the genetic basis of common features as well as distinctions will finally help to provide better diagnosis, prediction and a better design of personalized therapies to prevent and treat upper GI malignancies. In our study we will apply different approaches. We will use statistical analyses (genome-wide association testing) to identify genetic markers, genes and biological pathways that play a role in development of upper GI malignancies. Further, we will use state-of-the art bioinformatics and biostatistic methods (polygenic risk score analysis, LD score regression) to explore common genetic features underlying BO, OAC and GC. In this study we would like to use (i) genetic data, (ii) data on malignant neoplasms of digestive organs (type of cancer: ICD10), (iii) data on diseases of oesophagus, stomach and duodenum (Diagnoses - main ICD10), and (iv) data on anthropometric characteristics from the full cohort.