Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report

The Lynch syndrome (LS) is an autosomal dominant condition usually characterized by germline pathogenic variants in DNA mismatch repair (MMR) genes. Despite the guidelines now available, determining the pathogenicity of rare variants remains challenging, as the clinical significance of a genetic var...

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Detalles Bibliográficos
Autores principales: Zumstein, L., Tuninetti, V., Vaira, M., Siatis, D., Palermo, F., Petracchini, M., Scotto, G., Turinetto, M., Piva, R., Pasini, B., Valabrega, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Survey Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10331303/
https://www.ncbi.nlm.nih.gov/pubmed/37434947
http://dx.doi.org/10.1016/j.gore.2023.101220

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10331303/
https://www.ncbi.nlm.nih.gov/pubmed/37434947
http://dx.doi.org/10.1016/j.gore.2023.101220

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