Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility

Germline mutations leading to aneuploidy are rare, and their tumor-promoting properties are mostly unknown at the molecular level. We report here novel germline biallelic mutations in MAD1L1, encoding the spindle assembly checkpoint (SAC) protein MAD1, in a 36-year-old female with a dozen of neoplas...

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Detalles Bibliográficos
Autores principales: Villarroya-Beltri, Carolina, Osorio, Ana, Torres-Ruiz, Raúl, Gómez-Sánchez, David, Trakala, Marianna, Sánchez-Belmonte, Agustin, Mercadillo, Fátima, Hurtado, Begoña, Pitarch, Borja, Hernández-Núñez, Almudena, Gómez-Caturla, Antonio, Rueda, Daniel, Perea, José, Rodríguez-Perales, Sandra, Malumbres, Marcos, Urioste, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Biomedicine and Life Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629740/
https://www.ncbi.nlm.nih.gov/pubmed/36322655
http://dx.doi.org/10.1126/sciadv.abq5914

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629740/
https://www.ncbi.nlm.nih.gov/pubmed/36322655
http://dx.doi.org/10.1126/sciadv.abq5914

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