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Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer

Background: Lynch syndrome is associated with genetic variants in mismatch repair (MMR) genes. Pathogenic variants in the MLH1 and MSH2 genes occur in most families in which the phenotype is highly penetrant. These testing criteria are likely to miss individuals with Lynch syndrome due to the less p...

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Detalhes bibliográficos
Publicado no:Cancer Manag Res
Main Authors: Liccardo, Raffaella, Della Ragione, Carlo, Mitilini, Nunzio, De Rosa, Marina, Izzo, Paola, Duraturo, Francesca
Formato: Artigo
Idioma:Inglês
Publicado em: Dove 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6645597/
https://ncbi.nlm.nih.gov/pubmed/31410062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/CMAR.S167348
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