| Title |
Fanconi anemia in Ashkenazi Jews
|
|---|---|
| Published in |
Familial Cancer, September 2004
|
| DOI | 10.1007/s10689-004-9565-8 |
| Pubmed ID | |
| Authors |
David I. Kutler, Arleen D. Auerbach |
| Abstract |
Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complementation groups reported, and 8 (i.e., FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL) genes have been isolated. While patients may be from widely diverse ethnic groups, a single mutation in complementation group FA-C, c.711 + 4A > T (commonly known as IVS4 + 4A > T prior to current nomenclature rules) is unique to FA patients of Ashkenazi Jewish ancestry, and has a carrier frequency of greater than 1/100 in this population. In addition, a mutation (c.65G > A) in FANCA (FA-A is the most common complementation group in non-Jewish patients) and the mutation c.6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population. Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specific to the Ashkenazi. |
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 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 3% |
| Brazil | 1 | 3% |
| Unknown | 37 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 18% |
| Researcher | 7 | 18% |
| Student > Doctoral Student | 4 | 10% |
| Student > Bachelor | 4 | 10% |
| Professor | 3 | 8% |
| Other | 9 | 23% |
| Unknown | 5 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 12 | 31% |
| Medicine and Dentistry | 10 | 26% |
| Biochemistry, Genetics and Molecular Biology | 9 | 23% |
| Immunology and Microbiology | 1 | 3% |
| Chemical Engineering | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 6 | 15% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 12 May 2023.
All research outputs
#7,435,086
of 25,599,531 outputs
Outputs from Familial Cancer
#154
of 589 outputs
Outputs of similar age
#20,745
of 70,212 outputs
Outputs of similar age from Familial Cancer
#8
of 9 outputs
Altmetric has tracked 25,599,531 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 589 research outputs from this source. They receive a mean Attention Score of 4.3. This one has gotten more attention than average, scoring higher than 73% of its peers.
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