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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...
Autores principales: | Liccardo, Raffaella, Della Ragione, Carlo, Mitilini, Nunzio, De Rosa, Marina, Izzo, Paola, Duraturo, Francesca |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6645597/ https://www.ncbi.nlm.nih.gov/pubmed/31410062 http://dx.doi.org/10.2147/CMAR.S167348 |
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