Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome

Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC), and it is characterized by DNA mismatch repair (MMR) deficiency. The term Lynch-like syndrome (LLS) is used for patients with MMR-deficient tumors and neither germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM nor MLH1...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Golubicki, Mariano, Bonjoch, Laia, Acuña-Ochoa, José G., Díaz-Gay, Marcos, Muñoz, Jenifer, Cuatrecasas, Miriam, Ocaña, Teresa, Iseas, Soledad, Mendez, Guillermo, Cisterna, Daniel, Schubert, Stephanie A., Nielsen, Maartje, van Wezel, Tom, Goldberg, Yael, Pikarsky, Eli, Robbio, Juan, Roca, Enrique, Castells, Antoni, Balaguer, Francesc, Antelo, Marina, Castellví-Bel, Sergi
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7526538/
https://ncbi.nlm.nih.gov/pubmed/32841224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.140698
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