Genotype-phenotype correlation of oral manifestations of FAP
Research type
Research Study
Full title
Genotype-phenotype correlation of oral manifestations of Familial Adenomatous Polyposis
IRAS ID
167990
Contact name
Sue Clark
Contact email
Sponsor organisation
London North West Hospitals NHS Trust
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
Familial Adenomatous Polyposis (FAP) is a genetic disorder, arising from a mutation in the APC gene, in which those affected develop hundreds to thousands of polpys in their large bowel. They will go on to develop cancer of the colon before the age of forty and thus in early adulthood the majority of patients undergo surgery for colonic resection. Patients with FAP also develop a number of problems not related to their bowel. Dental anomalies are amongst these 'extra intestinal' manifestations. These will include problems in the number, shape and eruption of teeth as well as lesions arising in the body of the lower jaw. Many studies have been done to show a correlation between a number of these extra colonic manifestations of the disease and the specific type of APC gene mutation (the genotype). No such correlation has yet been made with the dental abnormalities associated with FAP
Through this study we aim to identify the presence, type and frequency of abnormalities in dentition in a cross section of patients known to have FAP. In doing so it is envisaged that we can draw some correlation between the dental manifestations of the disease with specific patterns of mutations of the APC gene.
Subsequently this information could potentially be used as a tool in the screening of high risk individuals and their families.
REC name
London - Brent Research Ethics Committee
REC reference
15/LO/1177
Date of REC Opinion
26 Jun 2015
REC opinion
Favourable Opinion