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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls
|
|---|---|
| Published in |
Breast Cancer Research, August 2015
|
| DOI | 10.1186/s13058-015-0627-7 |
| Pubmed ID | |
| Authors |
Ella R. Thompson, Kylie L. Gorringe, Simone M. Rowley, Michelle W. Wong-Brown, Simone McInerny, Na Li, Alison H. Trainer, Lisa Devereux, Maria A. Doyle, Jason Li, Richard Lupat, Martin B. Delatycki, LifePool Investigators, Gillian Mitchell, Paul A. James, Rodney J. Scott, Ian G. Campbell |
| Abstract |
PALB2 is emerging as a high-penetrance breast cancer predisposition gene in the order of BRCA1 and BRCA2. However, large studies that have evaluated the full gene rather than just the most common variants in both cases and controls are required before all truncating variants can be included in familial breast cancer variant testing. In this study we analyse almost 2000 breast cancer cases sourced from individuals referred to familial cancer clinics, thus representing typical cases presenting in clinical practice. These cases were compared to a similar number of population-based cancer-free controls. We identified a significant excess of truncating variants in cases (1.3 %) versus controls (0.2 %), including six novel variants (p = 0.0001; odds ratio (OR) 6.58, 95 % confidence interval (CI) 2.3-18.9). Three of the four control individuals carrying truncating variants had at least one relative with breast cancer. There was no excess of missense variants in cases overall, but the common c.1676A > G variant (rs152451) was significantly enriched in cases and may represent a low-penetrance polymorphism (p = 0.002; OR 1.24 (95 % CI 1.09-1.47). Our findings support truncating variants in PALB2 as high-penetrance breast cancer susceptibility alleles, and suggest that a common missense variant may also lead to a low level of increased breast cancer risk. |
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 % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Belgium | 1 | 2% |
| Unknown | 43 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 20% |
| Student > Bachelor | 6 | 14% |
| Student > Ph. D. Student | 5 | 11% |
| Other | 3 | 7% |
| Student > Doctoral Student | 2 | 5% |
| Other | 7 | 16% |
| Unknown | 12 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 10 | 23% |
| Medicine and Dentistry | 10 | 23% |
| Agricultural and Biological Sciences | 7 | 16% |
| Nursing and Health Professions | 2 | 5% |
| Psychology | 1 | 2% |
| Other | 3 | 7% |
| Unknown | 11 | 25% |
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 18 August 2015.
All research outputs
#20,655,488
of 25,373,627 outputs
Outputs from Breast Cancer Research
#1,705
of 2,052 outputs
Outputs of similar age
#203,700
of 277,601 outputs
Outputs of similar age from Breast Cancer Research
#38
of 42 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,052 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 12.2. This one is in the 8th percentile – i.e., 8% of its peers scored the same or lower than it.
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