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Article

Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms.

Oncology reports - 1 Nov 2015

Ratajska Magdalena, Matusiak Magdalena, Kuzniacka Alina, Wasag Bartosz, Brozek Izabela, Biernat Wojciech, Koczkowska Magdalena, Debniak Jaroslaw, Sniadecki Marcin, Kozlowski Piotr, Klonowska Katarzyna, Pilyugin Maxim, Wydra Dariusz, Laurent Geoff, Limon Janusz, Irminger-Finger Irmgard

Abstract excerpt

BARD1 is the main binding partner of BRCA1 and is required for its stability and tumor-suppressor functions. In breast cancer and other epithelial cell carcinomas, alternatively spliced isoforms of BARD1 are highly upregulated and correlated with poor outcome. Recent data indicate that germline mutations of BARD1 may predispose to breast and/or ovarian cancer. To evaluate the role of BARD1 germline mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26329992
DOI: 10.3892/or.2015.4235

Genes

BARD1
BRCA1

Variants

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