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Genomic screening of testicular germ cell tumors from monozygotic twins

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2014
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3 tweeters

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6 Dimensions

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10 Mendeley
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Title
Genomic screening of testicular germ cell tumors from monozygotic twins
Published in
Orphanet Journal of Rare Diseases, November 2014
DOI 10.1186/s13023-014-0181-x
Pubmed ID
Authors

Sara Martoreli Silveira, Isabela Werneck da Cunha, Fabio Albuquerque Marchi, Ariane Fidelis Busso, Ademar Lopes, Silvia Regina Rogatto

Abstract

BackgroundTesticular germ cell tumors (TGCTs) account for 1-2% of all tumors in young and middle aged men. A 75-fold increase in TCGT development has been reported for monozygotic (MZ) twins. Therefore, the occurrence of simultaneous tumors in MZ twins emphasizes the importance of genetic factors that influence the risk of developing these tumors. Genomic screening was performed for one family containing MZ twins with testicular germ cell tumors, in order to define alterations associated with risk of tumor development.MethodsCopy number alterations were evaluated using array-CGH (4x44K, Agilent Technologies) in one seminoma and one embryonal carcinoma (EC) from MZ twins. In addition, genomic alterations from the tumors and peripheral blood cells of the twins were compared to the parental genomes via their peripheral blood cells.ResultsEmbryonal carcinoma (Twin-1 t) presented a lower frequency of genomic alterations compared to the seminoma (Twin-2 t). One minimal common region of loss was observed in 9p13.1-p12 in the comparison between DNA from blood samples for Twin-1 and Twin-2. In this region is mapped the CNTNAP3 gene which was confirmed as involved in losses by qPCR. Comparative analysis of novel CNVs between the Twin-1 t and Twin-2 t showed five minimal common regions involving gain at chromosomes 12 (12p12.3-p11.1 and 12p13.33-p12.3), while losses were observed at 10p15.3-p15.2, 13q21.1-q21.2 and 15q11.1-q11.2. In addition, one exclusive rare copy number alteration was detected in Twin-1 t and Twin-2 t, and 19 novel alterations were identified in the Twin-2 t.ConclusionDistinct genomic profiles for MZ twins with phenotypically different TGCT were described. Of particular interest, 12p gains were detected exclusively in tumor samples. In peripheral blood samples, loss of 9p13.1-p12 was the unique novel CNV shared by the twins, confirming the involvement of CNTNAP3 gene in TGCTs development. Although similar CNV profiles were shared by both the peripheral blood and tumor samples of the twins, tumor-specific CNV loci were identified for seminoma and non-seminomatous tumors. These findings suggest the presence of de novo germline structural alterations and TGCT predisposition.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 3 30%
Student > Bachelor 2 20%
Student > Master 1 10%
Professor > Associate Professor 1 10%
Lecturer 1 10%
Other 0 0%
Unknown 2 20%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 30%
Medicine and Dentistry 3 30%
Agricultural and Biological Sciences 2 20%
Unknown 2 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 03 November 2015.
All research outputs
#9,656,670
of 15,754,679 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,099
of 1,681 outputs
Outputs of similar age
#150,840
of 307,571 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#87
of 142 outputs
Altmetric has tracked 15,754,679 research outputs across all sources so far. This one is in the 36th percentile – i.e., 36% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,681 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one is in the 31st percentile – i.e., 31% 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 307,571 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 142 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.