Title |
Cancer predisposing BARD1 mutations in breast–ovarian cancer families
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Published in |
Breast Cancer Research and Treatment, February 2011
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DOI | 10.1007/s10549-011-1403-8 |
Pubmed ID | |
Authors |
Magdalena Ratajska, Ewelina Antoszewska, Anna Piskorz, Izabela Brozek, Åke Borg, Hanna Kusmierek, Wojciech Biernat, Janusz Limon |
Abstract |
The breast cancer susceptibility gene BARD1 (BRCA1-associated RING domain protein, MIM# 601593) acts with BRCA1 in DNA double-strand break (DSB) repair and also in apoptosis initiation. We screened 109 BRCA1/2 negative high-risk breast and/or ovarian cancer patients from North-Eastern Poland for BARD1 germline mutations using a combination of denaturing high-performance liquid chromatography and direct sequencing. We identified 16 different BARD1 sequence variants, five of which are novel. Three of them were suspected to be pathogenic, including a protein truncating nonsense mutation (c.1690C>T, p.Gln564X), a splice mutation (c.1315-2A>G) resulting in exon 5 skipping, and a silent change (c.1977A>G) which alters several exonic splicing enhancer motifs in exon 10 and results in a transcript lacking exons 2-9. Our findings suggest that BARD1 mutations may be regarded as cancer risk alleles and warrant further investigation to determine their actual contribution to non-BRCA1/2 breast and ovarian cancer families. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Iraq | 1 | 1% |
United States | 1 | 1% |
Poland | 1 | 1% |
Unknown | 87 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 17 | 19% |
Student > Ph. D. Student | 15 | 17% |
Researcher | 12 | 13% |
Other | 9 | 10% |
Student > Bachelor | 5 | 6% |
Other | 17 | 19% |
Unknown | 15 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 29 | 32% |
Biochemistry, Genetics and Molecular Biology | 25 | 28% |
Medicine and Dentistry | 12 | 13% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
Chemical Engineering | 1 | 1% |
Other | 3 | 3% |
Unknown | 18 | 20% |