RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

Case–control studies have shown an association of BARD1 with hereditary breast and/or ovarian cancer (HBOC) predisposition. BARD1 alternatively spliced isoforms are abundant and some are highly expressed in different cancer types. In addition, a number of BARD1 germline pathogenic variants have been...

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Detalles Bibliográficos
Autores principales: Rofes, Paula, Pineda, Marta, Feliubadaló, Lídia, Menéndez, Mireia, de Cid, Rafael, Gómez, Carolina, Montes, Eva, Capellá, Gabriel, Brunet, Joan, del Valle, Jesús, Lázaro, Conxi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8617171/
https://www.ncbi.nlm.nih.gov/pubmed/34824355
http://dx.doi.org/10.1038/s41598-021-02465-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8617171/
https://www.ncbi.nlm.nih.gov/pubmed/34824355
http://dx.doi.org/10.1038/s41598-021-02465-y

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