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Article

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

Scientific reports - 25 Nov 2021

Rofes Paula, Pineda Marta, Feliubadaló Lídia, Menéndez Mireia, de Cid Rafael, Gómez Carolina, Montes Eva, Capellá Gabriel, Brunet Joan, Del Valle Jesús, Lázaro Conxi

Abstract excerpt

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 reported among HBOC patients. In previous reports, BARD1 c.1977A>G variant has been classified as pathogenic since...

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PMID: 34824355
DOI: 10.1038/s41598-021-02465-y
PMCID: PMC8617171

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