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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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Glavni autor: Mathó, Cecilia (author)
Daljnji autori: 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
Jezik:engleski
Izdano: 2025
Teme:
Lynch Syndrome
Colorectal cancer
LATAM
NGS
Novel variants
Germline cancer predisposition
Online pristup:https://hdl.handle.net/20.500.12008/54181
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https://hdl.handle.net/20.500.12008/54181

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