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Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

Overview of attention for article published in Breast Cancer Research, January 2018
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (56th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (54th percentile)

Mentioned by

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5 tweeters

Citations

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13 Dimensions

Readers on

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38 Mendeley
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Title
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs
Published in
Breast Cancer Research, January 2018
DOI 10.1186/s13058-017-0929-z
Pubmed ID
Authors

Na Li, Simone M. Rowley, Ella R. Thompson, Simone McInerny, Lisa Devereux, Kaushalya C. Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H. Trainer, Kylie L. Gorringe, Paul A. James, Ian G. Campbell

Abstract

Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated with small increases in breast cancer risk. Studies to date suggest that some SNPs alter the expression of the associated genes, which potentially mediates risk modification. On this basis, we hypothesised that some of these genes may be enriched for rare coding variants associated with a higher breast cancer risk. The coding regions and exon-intron boundaries of 56 genes that have either been proposed by GWASs to be the regulatory targets of the SNPs and/or located < 500 kb from the risk SNPs were sequenced in index cases from 1043 familial breast cancer families that previously had negative test results for BRCA1 and BRCA2 mutations and 944 population-matched cancer-free control participants from an Australian population. Rare (minor allele frequency ≤ 0.001 in the Exome Aggregation Consortium and Exome Variant Server databases) loss-of-function (LoF) and missense variants were studied. LoF variants were rare in both the cases and control participants across all the candidate genes, with only 38 different LoF variants observed in a total of 39 carriers. For the majority of genes (n = 36), no LoF variants were detected in either the case or control cohorts. No individual gene showed a significant excess of LoF or missense variants in the cases compared with control participants. Among all candidate genes as a group, the total number of carriers with LoF variants was higher in the cases than in the control participants (26 cases and 13 control participants), as was the total number of carriers with missense variants (406 versus 353), but neither reached statistical significance (p = 0.077 and p = 0.512, respectively). The genes contributing most of the excess of LoF variants in the cases included TET2, NRIP1, RAD51B and SNX32 (12 cases versus 2 control participants), whereas ZNF283 and CASP8 contributed largely to the excess of missense variants (25 cases versus 8 control participants). Our data suggest that rare LoF and missense variants in genes associated with low-penetrance breast cancer risk SNPs may contribute some additional risk, but as a group these genes are unlikely to be major contributors to breast cancer heritability.

Twitter Demographics

The data shown below were collected from the profiles of 5 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 38 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 16%
Student > Bachelor 4 11%
Student > Master 4 11%
Researcher 3 8%
Professor 3 8%
Other 9 24%
Unknown 9 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 8 21%
Medicine and Dentistry 6 16%
Agricultural and Biological Sciences 6 16%
Nursing and Health Professions 2 5%
Engineering 2 5%
Other 4 11%
Unknown 10 26%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 24 January 2018.
All research outputs
#8,977,069
of 16,534,657 outputs
Outputs from Breast Cancer Research
#1,002
of 1,694 outputs
Outputs of similar age
#176,613
of 413,079 outputs
Outputs of similar age from Breast Cancer Research
#40
of 87 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. This one is in the 45th percentile – i.e., 45% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,694 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.1. This one is in the 39th percentile – i.e., 39% 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 413,079 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 56% of its contemporaries.
We're also able to compare this research output to 87 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 54% of its contemporaries.