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The association of copy number variation and percent mammographic density

Overview of attention for article published in BMC Research Notes, July 2015
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Title
The association of copy number variation and percent mammographic density
Published in
BMC Research Notes, July 2015
DOI 10.1186/s13104-015-1212-y
Pubmed ID
Authors

Elizabeth J Atkinson, Jeanette E Eckel-Passow, Alice Wang, Alexandra J Greenberg, Christopher G Scott, V Shane Pankratz, Kristen N Purrington, Thomas A Sellers, David N Rider, John A Heit, Mariza de Andrade, Julie M Cunningham, Fergus J Couch, Celine M Vachon

Abstract

Percent mammographic density (PD) estimates the proportion of stromal, fat, and epithelial breast tissues on the mammogram image. Adjusted for age and body mass index (BMI), PD is one of the strongest risk factors for breast cancer [1]. Inherited factors are hypothesized to explain between 30 and 60% of the variance in this trait [2-5]. However, previously identified common genetic variants account for less than 6% of the variance in PD, leaving much of the genetic contribution to this trait unexplained. We performed the first study to examine whether germline copy number variation (CNV) are associated with PD. Two genome-wide association studies (GWAS) of percent density conducted on the Illumina 660W-Quad were used to identify and replicate the association between candidate CNVs and PD: the Minnesota Breast Cancer Family Study (MBCFS) and controls from the Mayo Venous Thromboembolism (Mayo VTE) Case-Control Study, with 585 and 328 women, respectively. Linear models were utilized to examine the association of each probe with PD, adjusted for age, menopausal status and BMI. Segmentation was subsequently performed on the probe-level test statistics to identify candidate CNV regions that were associated with PD. Sixty-one probes from five chromosomal regions [3q26.1 (2 regions), 8q24.22, 11p15.3, and 17q22] were significantly associated with PD in MBCFS (p-values <0.0001). A CNV at 3q26.1 showed the greatest evidence for association with PD; a region without any known SNPs. Conversely, the CNV at 17q22 was largely due to the association between SNPs and PD in the region. SNPs in the 8q24.22 region have been shown to be associated with risk of many cancers; however, SNPs in this region were not responsible for the observed CNV association. While we were unable to replicate the associations with PD, two of the five CNVs (3q26.1 and 11p15.3) were also observed in the Mayo VTE controls. CNVs may help to explain some of the variability in PD that is currently unexplained by SNPs. While we were able to replicate the existence of two CNVs across the two GWAS studies, we were unable to replicate the associations with PD. Even so, the proximity of the identified CNV regions to loci known to be associated with breast cancer risk suggests further investigation and potentially shared genetic mechanisms underlying the PD and breast cancer association.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Uruguay 1 4%
Unknown 23 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 21%
Student > Master 3 13%
Other 2 8%
Student > Postgraduate 2 8%
Professor > Associate Professor 2 8%
Other 2 8%
Unknown 8 33%
Readers by discipline Count As %
Medicine and Dentistry 7 29%
Biochemistry, Genetics and Molecular Biology 4 17%
Agricultural and Biological Sciences 1 4%
Psychology 1 4%
Computer Science 1 4%
Other 0 0%
Unknown 10 42%
Attention Score in Context

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 31 July 2015.
All research outputs
#18,420,033
of 22,818,766 outputs
Outputs from BMC Research Notes
#3,015
of 4,262 outputs
Outputs of similar age
#188,632
of 262,328 outputs
Outputs of similar age from BMC Research Notes
#53
of 87 outputs
Altmetric has tracked 22,818,766 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.
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