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Identification of inherited predispositions to Barrett's oesophagus and oesophageal adenocarcinoma

Janusz Jankowski, Ian Tomlinson

Oesophageal cancer accounts for 9% of cancer deaths in the GI tract and is the fifth commonest cause of cancer death worldwide. The UK has the highest incidence of oesophageal adenocarcinoma (OAC) in the world. OAC is strongly associated with the pre-malignant condition Barrett's oesophagus (BO), which in turn is associated with chronic gastro-oesophageal reflux (GORD).

Oesophageal adenocarcinoma has increased rapidly in incidence over the past 30 years. It is very difficult to treat and has a very poor morbidity and mortality. OAC is strongly associated with Barrett's oesophagus, a pre-malignant metaplastic change of the oesophageal epithelium. BO and OAC are associated with some environmental factors, such as smoking and body mass index, although the effectiveness of modifying these factors to prevent cancer is uncertain. Evidence shows that genetic factors are also highly likely to contribute to both BO - and probably to OAC - and that high- or moderate-penetrance alleles are unlikely to be responsible. Our aim is to identify SNPs and CNVs that predispose to BO in the UK population. We shall then test these polymorphisms for their effects on OAC susceptibility. This study will build on our existing, successful work on identifying common, low-penetrance alleles that predispose to gastrointestinal cancer. Identifying those at increased genetic risk of OAC and BO will allow endoscopic screening of those at highest risk and targeting of chemoprevention. For example, identifying individuals with GORD at high risk of BO would be of great benefit to clinical practice and individualized medicine. Our work may also stimulate the development of new preventive measures for BO and OAC.