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

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 adm...

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Bibliographic Details

Main Author:	Mathó, Cecilia (author)
Other Authors:	Chávez, Santiago (author), Fort Canobra, Rafael S (author), Della Valle, Adriana (author), Neffa, Florencia (author), Sotelo-Silveira, José Roberto (author), Artagaveytia, Nora (author), Duhagon, María Ana (author)
Format:	article
Language:	English
Published:	2025
Subjects:	Lynch Syndrome Colorectal cancer LATAM NGS Novel variants Germline cancer predisposition
Online Access:	https://hdl.handle.net/20.500.12008/54181
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