Genomic landscape of hereditary cancer syndromes in the largest cohort in Colombia: a retrospective study.

ABSTRACT:

Background

Considerable fraction of global cancer cases stem from hereditary cancer predisposition syndromes (HCSs). The identification of genetic variants linked to HCSs is crucial for prompt treatment of both patients and their families. This study aimed to assess the diagnostic performance of multigene panels in detecting variants linked to hereditary cancer predisposition in a cohort of 8165 individuals from Colombia.

Methods

We analyzed 8165 individuals in Colombia (2018-2024), with and without personal or family cancer history, using NGS hereditary cancer panels. Variant interpretation (P, LP, VUS) was performed with SOPHiA DDM and Varsome Clinical, following ACMG guidelines and ClinGen Hereditary Cancer Group criteria.

Findings

61.8% (n = 5049) of patients were

SUBMITTER: Lopez Rivera JJ 

PROVIDER: S-EPMC12732315 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature