Åke Borg
Principal investigator
Cancer predisposing BARD1 mutations in breast-ovarian cancer families
Author
Summary, in English
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.
Department/s
- Breastcancer-genetics
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
Publishing year
2012
Language
English
Pages
89-97
Publication/Series
Breast Cancer Research and Treatment
Volume
131
Issue
1
Document type
Journal article
Publisher
Springer
Topic
- Cancer and Oncology
Keywords
- Breast cancer
- Ovarian cancer
- Hereditary
- BARD1 mutation
Status
Published
ISBN/ISSN/Other
- ISSN: 1573-7217