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

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

IntroductionLynch 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 admix...

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Main Authors: Cecilia Mathó, Santiago Chávez, Rafael Sebastián Fort, Adriana Della Valle, Florencia Neffa, José Roberto Sotelo-Silveira, Nora Artagaveytia, María Ana Duhagon
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Oncology
Subjects:
Lynch Syndrome
colorectal cancer
LATAM
NGS
novel variants
germline cancer predisposition
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2025.1589765/full
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https://www.frontiersin.org/articles/10.3389/fonc.2025.1589765/full

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