Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.

ABSTRACT:

Introduction

Lynch Syndrome accounts for 1-7% of all colorectal cancers and is caused by germline mutations in DNA mismatch repair (MMR) genes. Timely molecular diagnosis is crucial for effective genetic counseling and management. Among understudied Latin American populations, Uruguay's genetic admixture provides an opportunity to identify novel Lynch Syndrome related variants.

Methods

This study analyzed 70 unrelated Uruguayan colorectal cancer patients meeting Lynch Syndrome clinical criteria to identify carriers of pathogenic variants. A customized Next-Generation Sequencing (NGS) panel was developed and sequenced on the Ion Torrent platform to analyze nine genes: MLH1, MSH2, MSH6, EPCAM, FAN1, MUTYH, PMS1, PMS2, and APC. Copy number variations and large EPC

SUBMITTER: Matho C 

PROVIDER: S-EPMC12353692 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature