↓ Skip to main content

Patterns and functional implications of rare germline variants across 12 cancer types

Overview of attention for article published in Nature Communications, December 2015
Altmetric Badge

About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

news
17 news outlets
blogs
2 blogs
twitter
60 X users
facebook
11 Facebook pages
googleplus
1 Google+ user

Citations

dimensions_citation
245 Dimensions

Readers on

mendeley
392 Mendeley
citeulike
3 CiteULike
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Patterns and functional implications of rare germline variants across 12 cancer types
Published in
Nature Communications, December 2015
DOI 10.1038/ncomms10086
Pubmed ID
Authors

Charles Lu, Mingchao Xie, Michael C. Wendl, Jiayin Wang, Michael D. McLellan, Mark D. M. Leiserson, Kuan-lin Huang, Matthew A. Wyczalkowski, Reyka Jayasinghe, Tapahsama Banerjee, Jie Ning, Piyush Tripathi, Qunyuan Zhang, Beifang Niu, Kai Ye, Heather K. Schmidt, Robert S. Fulton, Joshua F. McMichael, Prag Batra, Cyriac Kandoth, Maheetha Bharadwaj, Daniel C. Koboldt, Christopher A. Miller, Krishna L. Kanchi, James M. Eldred, David E. Larson, John S. Welch, Ming You, Bradley A. Ozenberger, Ramaswamy Govindan, Matthew J. Walter, Matthew J. Ellis, Elaine R. Mardis, Timothy A. Graubert, John F. Dipersio, Timothy J. Ley, Richard K. Wilson, Paul J. Goodfellow, Benjamin J. Raphael, Feng Chen, Kimberly J. Johnson, Jeffrey D. Parvin, Li Ding

Abstract

Large-scale cancer sequencing data enable discovery of rare germline cancer susceptibility variants. Here we systematically analyse 4,034 cases from The Cancer Genome Atlas cancer cases representing 12 cancer types. We find that the frequency of rare germline truncations in 114 cancer-susceptibility-associated genes varies widely, from 4% (acute myeloid leukaemia (AML)) to 19% (ovarian cancer), with a notably high frequency of 11% in stomach cancer. Burden testing identifies 13 cancer genes with significant enrichment of rare truncations, some associated with specific cancers (for example, RAD51C, PALB2 and MSH6 in AML, stomach and endometrial cancers, respectively). Significant, tumour-specific loss of heterozygosity occurs in nine genes (ATM, BAP1, BRCA1/2, BRIP1, FANCM, PALB2 and RAD51C/D). Moreover, our homology-directed repair assay of 68 BRCA1 rare missense variants supports the utility of allelic enrichment analysis for characterizing variants of unknown significance. The scale of this analysis and the somatic-germline integration enable the detection of rare variants that may affect individual susceptibility to tumour development, a critical step toward precision medicine.

X Demographics

X Demographics

The data shown below were collected from the profiles of 60 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 392 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 5 1%
Germany 2 <1%
United Kingdom 2 <1%
Sweden 2 <1%
Italy 1 <1%
Ireland 1 <1%
Netherlands 1 <1%
Canada 1 <1%
France 1 <1%
Other 2 <1%
Unknown 374 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 89 23%
Student > Ph. D. Student 66 17%
Student > Master 31 8%
Student > Doctoral Student 29 7%
Student > Bachelor 26 7%
Other 80 20%
Unknown 71 18%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 114 29%
Agricultural and Biological Sciences 88 22%
Medicine and Dentistry 63 16%
Computer Science 14 4%
Immunology and Microbiology 7 2%
Other 22 6%
Unknown 84 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 175. 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 10 May 2017.
All research outputs
#206,050
of 23,730,866 outputs
Outputs from Nature Communications
#2,952
of 49,505 outputs
Outputs of similar age
#3,595
of 394,272 outputs
Outputs of similar age from Nature Communications
#57
of 746 outputs
Altmetric has tracked 23,730,866 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 49,505 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 56.2. This one has done particularly well, scoring higher than 94% of its peers.
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 394,272 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 99% of its contemporaries.
We're also able to compare this research output to 746 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 92% of its contemporaries.