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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Detalles Bibliográficos
Autores principales: Liccardo, Raffaella, Della Ragione, Carlo, Mitilini, Nunzio, De Rosa, Marina, Izzo, Paola, Duraturo, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2019
Materias:
Original Research
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

Internet

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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