Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family

BACKGROUND: Germline variants in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) cause Lynch syndrome, an autosomal dominant hereditary cancer susceptibility syndrome. The risk for endometrial cancer is significantly higher in women with MSH6 pathogenic/likely pathogenic (P/LP) vari...

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Detalles Bibliográficos
Autores principales: Yang, Ciyu, Misyura, Maksym, Kane, Sarah, Rai, Vikas, Latham, Alicia, Zhang, Liying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938752/
https://www.ncbi.nlm.nih.gov/pubmed/36691871
http://dx.doi.org/10.1002/mgg3.2104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938752/
https://www.ncbi.nlm.nih.gov/pubmed/36691871
http://dx.doi.org/10.1002/mgg3.2104

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