Bowel Polyposis – Genetic mechanisms in polyposis of the bowelLead Site
CardiffLocal Principal Investigator
Professor Jill Clayton-SmithStudy Status
This study aims to discover novel genetic mechanisms underlying polyposis of the bowel and the development of tumours in this group of disorders.
Manchester will recruit patients in whom no clearly pathogenic mutation was identified (NMI) in known polyposis genes during routine diagnostic testing. The lead site (Cardiff) will also recruit participants in whom a known polyposis-causing gene has been found and patients in whom an uncharacterised variant of unknown pathogenicity has been found.Inclusion Criteria
Individuals affected with polyposis in whom no clearly pathogenic mutation was identified (NMI) in known polyposis genes during routine diagnostic testing.Exclusion Criteria
Individuals under 18 years of age.Open Sites
Lead Site: Cardiff. Aberdeen ,Birmingham ,Bristol, Cambridge, Dundee, Edinburgh, Exeter, Glasgow, Leeds, Liverpool, Manchester, Newcastle, Nottingham, Oxford, Sheffield, Southampton, St George’sFor more information click here