Familial colorectal cancer: search for novel predisposition genes.

ABSTRACT:

Background

Family history of colorectal cancer (CRC) and multiple primary CRCs in a single person may indicate inherited CRC predisposition.

Methods

In the present study, we performed whole exome/genome sequencing on germline DNA from at least two CRC cases in 19 families and from family members with a double primary CRC from seven additional families. We used a set of in silico predictions in combination with a STRING protein-protein interaction and pathway analysis to identify the most likely variants predisposing to CRC.

Results

We identified Cell cycle/DNA repair and TGFβ signaling/Focal adhesion/Extracellular matrix organization pathways as highly significant protein-protein interaction networks. Variants in the APCDD1, CYBA, PTK7 and SRC genes were identified in

SUBMITTER: Forsti A 

PROVIDER: S-EPMC12849417 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature