Journal
ONCOLOGY REPORTS
Volume 34, Issue 5, Pages 2609-2617Publisher
SPANDIDOS PUBL LTD
DOI: 10.3892/or.2015.4235
Keywords
BARD1; ovarian cancer; mutations; splicing
Categories
Funding
- Polish National Science Centre [N407 627740, 2011/02/A/NZ2/00017, 2011/01/B/NZ5/02773]
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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 BARD] may predispose to breast and/or ovarian cancer. To evaluate the role of BARD] germline mutations in predisposition to ovarian cancer we scanned a cohort of 255 patients for the presence of previously reported mutations located in exons 5, 8 and 10 using high-resolution melting analysis. Within this group we identified single-patients carrying mutation in exon 8 (c.1690C>T, p.Gln564Ter), two different variants in exon 10 (c.1972C>T, p.Arg658Tyr; c.1977A>G, p.=) and a carrier of novel missense mutation located in exon 5 (c.1361C>T, p.Pro454Leu). Three out of four identified mutations alter exonic splicing enhancing motives and result in expression of incorrect splicing skipping of exons 5, 8, and 2-9, respectively. Our data indicate that BARD] variants may predispose to ovarian cancer in limited number of patients although based on actual data it is difficult to estimate its actual penetrance.
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