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PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps
Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1 , MSH2 , MSH6, and PMS2 (post-meiotic segregation increased 2). The MMR mutation carriers have high risk for cancers. Pathogenic PMS2 variants are rarely...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Georg Thieme Verlag KG
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9833889/ https://www.ncbi.nlm.nih.gov/pubmed/36644715 http://dx.doi.org/10.1055/s-0042-1759888 |