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

Abstract 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...

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Bibliographic Details
Main Authors: Paula Rofes, Marta Pineda, Lídia Feliubadaló, Mireia Menéndez, Rafael de Cid, Carolina Gómez, Eva Montes, Gabriel Capellá, Joan Brunet, Jesús del Valle, Conxi Lázaro
Format: article
Language:EN
Published: Nature Portfolio 2021
Subjects:
R
Q
Online Access:https://doaj.org/article/e832dc5f39ae4707b42c6464ddf64fb7
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