Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant

Pathogenic variants in BRCA2 are known to significantly increase the lifetime risk of developing breast and ovarian cancers. Sequencing-based genetic testing has resulted in the identification of thousands of BRCA2 variants that are considered to be variants of uncertain significance (VUS) because t...

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Detalles Bibliográficos
Autores principales: Mishra, Arun Prakash, Hartford, Suzanne, Chittela, Rajani Kant, Sahu, Sounak, Kharat, Suhas S., Alvaro-Aranda, Lucia, Contreras-Perez, Aida, Sullivan, Teresa, Martin, Betty K., Albaugh, Mary, Southon, Eileen, Burkett, Sandra, Karim, Baktiar, Carreira, Aura, Tessarollo, Lino, Sharan, Shyam K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657400/
https://www.ncbi.nlm.nih.gov/pubmed/37980415
http://dx.doi.org/10.1038/s41419-023-06289-8

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