CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC.

ABSTRACT:

Background

Familial adenomatous polyposis (FAP) is an autosomal dominant condition that predisposes patients to colorectal cancer. FAP is the result of a loss of APC function due to germline pathogenic variants disrupting gene expression. Genotype-phenotype correlations are described for FAP. For example attenuated forms of the disease are associated with pathogenic variants at the 5' and 3' ends of APC whilst severe forms of the disease appear to be linked to variants occurring in the mutation cluster region (MCR) of the gene. Variants occurring in the MCR are phenotypically associated with hundreds to thousands of adenomas carpeting the colon and rectum and patients harbouring changes in this region have a high propensity to develop colorectal cancer. Not all patients who carry p

SUBMITTER: Connor T 

PROVIDER: S-EPMC8086281 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature