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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:EN
Publié: Nature Portfolio 2021
Sujets:
R
Q
Accès en ligne:https://doaj.org/article/e832dc5f39ae4707b42c6464ddf64fb7
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!