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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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Bibliografski detalji
Izdano u:Cancer Manag Res
Glavni autori: Liccardo, Raffaella, Della Ragione, Carlo, Mitilini, Nunzio, De Rosa, Marina, Izzo, Paola, Duraturo, Francesca
Format: Artigo
Jezik:Inglês
Izdano: Dove 2019
Teme:
Online pristup: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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