BRCA1 frameshift variants leading to extended incorrect protein C termini

Carriers of BRCA1 germline pathogenic variants are at substantially higher risk of developing breast and ovarian cancer than the general population. Accurate identification of at-risk individuals is crucial for risk stratification and the implementation of targeted preventive and therapeutic interve...

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Detalles Bibliográficos
Autores principales: Nepomuceno, Thales C., Foo, Tzeh Keong, Richardson, Marcy E., Ranola, John Michael O., Weyandt, Jamie, Varga, Matthew J., Alarcon, Amaya, Gutierrez, Diana, von Wachenfeldt, Anna, Eriksson, Daniel, Kim, Raymond, Armel, Susan, Iversen, Edwin, Couch, Fergus J., Borg, Åke, Xia, Bing, Carvalho, Marcelo A., Monteiro, Alvaro N.A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10558845/
https://www.ncbi.nlm.nih.gov/pubmed/37718511
http://dx.doi.org/10.1016/j.xhgg.2023.100240

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