Bowel Polyposis

Full Study Name

Bowel Polyposis – Genetic mechanisms in polyposis of the bowel

Lead Site

Cardiff

Local Principal Investigator

Professor Jill Clayton-Smith

Study Status

recruiting

Main Aims

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’s

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