An intronic variant in the CELF4 gene is associated with risk for colorectal cancer.

ABSTRACT:

Background

Germline predisposition variants associated with colorectal cancer (CRC) have been identified but all are not yet identified. We sought to identify the responsible predisposition germline variant in an extended high-risk CRC pedigree that exhibited evidence of linkage to the 18q12.2 region (TLOD = +2.81).

Methods

DNA from two distantly related carriers of the hypothesized predisposition haplotype on 18q12.2 was sequenced to identify candidate variants. The candidate rare variants shared by the related sequenced subjects were screened in 3,094 CRC cases and 5x population-matched controls from UKBiobank to test for association. Further segregation of the variant was tested via Taqman assay in other sampled individuals in the pedigree.

Results

Analysis of whol

SUBMITTER: Teerlink CC 

PROVIDER: S-EPMC8158787 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature