| Title |
Cancer predisposing BARD1 mutations in breast–ovarian cancer families
|
|---|---|
| Published in |
Breast Cancer Research and Treatment, February 2011
|
| 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
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 90 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Iraq | 1 | 1% |
| United States | 1 | 1% |
| Poland | 1 | 1% |
| Unknown | 87 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| 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% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 August 2014.
All research outputs
#18,376,927
of 22,761,738 outputs
Outputs from Breast Cancer Research and Treatment
#3,712
of 4,652 outputs
Outputs of similar age
#94,106
of 106,706 outputs
Outputs of similar age from Breast Cancer Research and Treatment
#47
of 55 outputs
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