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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...

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Detalles Bibliográficos
Autores principales: Poaty, Henriette, Bouya, Lauria Batamba, Lumaka, Aimé, Mongo-Onkouo, Arnaud, Gassaye, Deby
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
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