Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes.

ABSTRACT:

Background

Familial adenomatous polyposis (FAP) is characterised by variable phenotypic expression. Part of this is attributable to a relationship between APC genotype and phenotype but there remains significant intrafamilial variation. In the Min mouse model of FAP, differences in the severity of gastrointestinal polyposis result from the action of modifier genes.

Aims

To determine whether phenotypic variation in human FAP has an inherited component consistent with the action of modifier genes.

Method

We systematically examined polyp numbers in colectomy specimens from patients with classical FAP. Variation both between and within families was analysed. Formal modelling of the segregation of disease severity in families was performed

Results

There was strong e

SUBMITTER: Crabtree MD 

PROVIDER: S-EPMC1773342 | biostudies-literature | 2002 Sep

REPOSITORIES: biostudies-literature