Germline variants in patients from the Iranian hereditary colorectal cancer registry.

ABSTRACT:

Background and aim

Hereditary cancer syndromes account for 6-10% of all colorectal cancer (CRC) cases and 20% of early-onset CRC. Identifying novel pathogenic germline variants can impact genetic testing, counseling, and surveillance. This study aimed to determine the prevalence of germline variants associated with hereditary CRC in the Iranian population.

Methods

Whole exome sequencing (WES) was conducted on DNA from 101 patients in the Iranian Hereditary Colorectal Cancer Registry (IHCCR). The cohort included 63 high-risk Lynch Syndrome (LS) patients and 38 colorectal polyposis patients. Germline variants and phenotype spectrum were assessed. Relatives of individuals with the mutations received counseling and cascade testing. Gene ontology and protein-protein interaction (

SUBMITTER: Goshayeshi L 

PROVIDER: S-EPMC11995590 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature