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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup
|
|---|---|
| Published in |
Biomarker Research, June 2015
|
| DOI | 10.1186/s40364-015-0038-z |
| Pubmed ID | |
| Authors |
Evelina Miele, Angela Mastronuzzi, Agnese Po, Andrea Carai, Vincenzo Alfano, Annalisa Serra, Giovanna Stefania Colafati, Luisa Strocchio, Manila Antonelli, Francesca Romana Buttarelli, Massimo Zani, Sergio Ferraro, Amelia Buffone, Alessandra Vacca, Isabella Screpanti, Felice Giangaspero, Giuseppe Giannini, Franco Locatelli, Elisabetta Ferretti |
| Abstract |
Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1 or its associated gene PALB2/FANCN. We report the case of a patient affected by Fanconi Anemia with Wilms tumor and unusual presentation of two medulloblastomas (MB1 and MB2). We identified a new pathogenetic germline BRCA2 mutation: c.2944_2944delA. Molecular analysis of MBs allowed us to define new features of MB in FA. MBs were found to belong to the Sonic Hedgehog (SHH) molecular subgroup with some differences between MB1 and MB2. We highlighted that MB in FA could share molecular aspects and hemispheric localization with sporadic adult SHH-MB. Our report provides new findings that shed new light on the genetic and molecular pathogenesis of MB in FA patients with implications in the disease management. |
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 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Czechia | 1 | 2% |
| Unknown | 51 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 8 | 15% |
| Researcher | 8 | 15% |
| Student > Bachelor | 6 | 12% |
| Student > Doctoral Student | 5 | 10% |
| Other | 3 | 6% |
| Other | 6 | 12% |
| Unknown | 16 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 16 | 31% |
| Biochemistry, Genetics and Molecular Biology | 8 | 15% |
| Agricultural and Biological Sciences | 6 | 12% |
| Psychology | 1 | 2% |
| Unspecified | 1 | 2% |
| Other | 2 | 4% |
| Unknown | 18 | 35% |
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 14 June 2015.
All research outputs
#18,414,796
of 22,811,321 outputs
Outputs from Biomarker Research
#216
of 312 outputs
Outputs of similar age
#192,381
of 266,605 outputs
Outputs of similar age from Biomarker Research
#5
of 8 outputs
Altmetric has tracked 22,811,321 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 312 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 20th percentile – i.e., 20% 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 266,605 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.