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The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

Overview of attention for article published in npj Breast Cancer, June 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (71st percentile)

Mentioned by

9 tweeters
1 Google+ user


36 Dimensions

Readers on

91 Mendeley
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
Published in
npj Breast Cancer, June 2017
DOI 10.1038/s41523-017-0024-8
Pubmed ID

Thomas P. Slavin, Kara N. Maxwell, Jenna Lilyquist, Joseph Vijai, Susan L. Neuhausen, Steven N. Hart, Vignesh Ravichandran, Tinu Thomas, Ann Maria, Danylo Villano, Kasmintan A. Schrader, Raymond Moore, Chunling Hu, Bradley Wubbenhorst, Brandon M. Wenz, Kurt D’Andrea, Mark E. Robson, Paolo Peterlongo, Bernardo Bonanni, James M. Ford, Judy E. Garber, Susan M. Domchek, Csilla Szabo, Kenneth Offit, Katherine L. Nathanson, Jeffrey N. Weitzel, Fergus J. Couch


Understanding the gene-specific risks for development of breast cancer will lead to improved clinical care for those carrying germline mutations in cancer predisposition genes. We sought to detail the spectrum of mutations and refine risk estimates for known and proposed breast cancer susceptibility genes. Targeted massively-parallel sequencing was performed to identify mutations and copy number variants in 26 known or proposed breast cancer susceptibility genes in 2134 BRCA1/2-negative women with familial breast cancer (proband with breast cancer and a family history of breast or ovarian cancer) from a largely European-Caucasian multi-institutional cohort. Case-control analysis was performed comparing the frequency of internally classified mutations identified in familial breast cancer women to Exome Aggregation Consortium controls. Mutations were identified in 8.2% of familial breast cancer women, including mutations in high-risk (odds ratio > 5) (1.4%) and moderate-risk genes (2 < odds ratio < 5) (2.9%). The remaining familial breast cancer women had mutations in proposed breast cancer genes (1.7%), Lynch syndrome genes (0.5%), and six cases had two mutations (0.3%). Case-control analysis demonstrated associations with familial breast cancer for ATM, PALB2, and TP53 mutations (odds ratio > 3.0, p < 10(-4)), BARD1 mutations (odds ratio = 3.2, p = 0.012), and CHEK2 truncating mutations (odds ratio = 1.6, p = 0.041). Our results demonstrate that approximately 4.7% of BRCA1/2 negative familial breast cancer women have mutations in genes statistically associated with breast cancer. We classified PALB2 and TP53 as high-risk, ATM and BARD1 as moderate risk, and CHEK2 truncating mutations as low risk breast cancer predisposition genes. This study demonstrates that large case-control studies are needed to fully evaluate the breast cancer risks associated with mutations in moderate-risk and proposed susceptibility genes.

Twitter Demographics

The data shown below were collected from the profiles of 9 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 91 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 91 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 20 22%
Student > Master 17 19%
Other 13 14%
Student > Ph. D. Student 10 11%
Student > Bachelor 10 11%
Other 21 23%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 32 35%
Agricultural and Biological Sciences 23 25%
Medicine and Dentistry 19 21%
Unspecified 11 12%
Computer Science 1 1%
Other 5 5%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 26 September 2018.
All research outputs
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Outputs from npj Breast Cancer
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Outputs of similar age
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Outputs of similar age from npj Breast Cancer
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Altmetric has tracked 13,180,561 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 145 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 23.1. This one is in the 35th percentile – i.e., 35% 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 267,403 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 71% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them