Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador

Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador

Abstract Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of hereditary CRC and it is caused by germline defects in the DNA-mismatch repair (MMR) pathway. It is of extreme importance for affected LS patients and their relatives to ident...

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Main Authors: Gemma Llargués-Sistac, Laia Bonjoch, Jenifer Muñoz, Xavier Domínguez-Rovira, Teresa Ocaña, Maria Isabel Alvarez-Mora, Celia Badenas, Anna Esteve-Codina, Carlos Reyes-Silva, Gabriela Jaramillo-Koupermann, Maria Teresa Rodrigo, Sandra López-Prades, Miriam Cuatrecasas, Antoni Castells, Francesc Balaguer, Leticia Moreira, Guerau Fernandez, Sergi Castellví-Bel
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00462-y
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