| Title |
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients
|
|---|---|
| Published in |
Hereditary Cancer in Clinical Practice, December 2013
|
| DOI | 10.1186/1897-4287-11-20 |
| Pubmed ID | |
| Authors |
Bente A Talseth-Palmer, Juul T Wijnen, Eva K Andreassen, Daniel Barker, Shantie Jagmohan-Changur, Carli M Tops, Cliff Meldrum, The Dutch Cancer Genetics Group, Allan Spigelman, Frederik J Hes, Tom Van Wezel, Hans FA Vasen, Rodney J Scott |
| Abstract |
Familial adenomatous polyposis (FAP) is usually characterised by the appearance of hundreds-to-thousands of adenomas throughout the colon and rectum and if left untreated the condition will develop into CRC with close to 100% penetrance. Germline mutations in the APC gene, which plays an integral role in the Wnt-signalling pathway, have been found to be responsible for 70-90% of FAP cases. Several studies suggest that modifier genes may play an important role in the development of CRC and possible modifiers for FAP have been suggested. Interestingly, a study has found that SNPs within ATP5A1 is associated with raised levels of ATP5A1 expression and high expression levels may facilitate CRC development. We aimed to determine if SNPs in ATP5A1 modify the risk of developing CRC/adenomas in FAP patients. |
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 % |
|---|---|---|
| Netherlands | 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 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Austria | 1 | 5% |
| Unknown | 19 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 15% |
| Lecturer > Senior Lecturer | 2 | 10% |
| Student > Bachelor | 2 | 10% |
| Professor | 2 | 10% |
| Professor > Associate Professor | 2 | 10% |
| Other | 6 | 30% |
| Unknown | 3 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 35% |
| Biochemistry, Genetics and Molecular Biology | 4 | 20% |
| Agricultural and Biological Sciences | 2 | 10% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
| Nursing and Health Professions | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 3 | 15% |
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 07 January 2014.
All research outputs
#20,656,161
of 25,373,627 outputs
Outputs from Hereditary Cancer in Clinical Practice
#173
of 260 outputs
Outputs of similar age
#243,874
of 319,895 outputs
Outputs of similar age from Hereditary Cancer in Clinical Practice
#2
of 4 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 260 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 17th percentile – i.e., 17% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 319,895 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.