An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome

We identified a three-generation Russian family with Lynch syndrome with a novel germline variant of the MSH6 gene. An 84-year-old female was diagnosed with endometrial adenocarcinoma at the age of 49 years. Her son was diagnosed with colorectal tubular adenoma at the age of 32 years. A germline non...

Descripción completa

Detalles Bibliográficos
Autores principales: Vostrukhina, Olga A., Mirlina, Elena D., Khmelkova, Darya N., Butrovich, Galina M., Shakhmatova, Alexandra D., Kil, Yury V., Polyatskin, Yliya L., Artemyeva, Anna S., Gulyaev, Alexey V., Verbenko, Valery N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605995/
https://www.ncbi.nlm.nih.gov/pubmed/36289196
http://dx.doi.org/10.1038/s41439-022-00216-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605995/
https://www.ncbi.nlm.nih.gov/pubmed/36289196
http://dx.doi.org/10.1038/s41439-022-00216-7

Ejemplares similares