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Mutations in BRIP1 confer high risk of ovarian cancer

Overview of attention for article published in Nature Genetics, October 2011
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (93rd percentile)
  • Good Attention Score compared to outputs of the same age and source (78th percentile)

Mentioned by

news
1 news outlet
twitter
2 X users
patent
1 patent
facebook
1 Facebook page
wikipedia
2 Wikipedia pages

Citations

dimensions_citation
324 Dimensions

Readers on

mendeley
310 Mendeley
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1 CiteULike
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Title
Mutations in BRIP1 confer high risk of ovarian cancer
Published in
Nature Genetics, October 2011
DOI 10.1038/ng.955
Pubmed ID
Authors

Thorunn Rafnar, Daniel F Gudbjartsson, Patrick Sulem, Aslaug Jonasdottir, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Soren Besenbacher, Pär Lundin, Simon N Stacey, Julius Gudmundsson, Olafur T Magnusson, Louise le Roux, Gudbjorg Orlygsdottir, Hafdis T Helgadottir, Hrefna Johannsdottir, Arnaldur Gylfason, Laufey Tryggvadottir, Jon G Jonasson, Ana de Juan, Eugenia Ortega, Jose M Ramon-Cajal, Maria D García-Prats, Carlos Mayordomo, Angeles Panadero, Fernando Rivera, Katja K H Aben, Anne M van Altena, Leon F A G Massuger, Mervi Aavikko, Paula M Kujala, Synnöve Staff, Lauri A Aaltonen, Kristrun Olafsdottir, Johannes Bjornsson, Augustine Kong, Anna Salvarsdottir, Hafsteinn Saemundsson, Karl Olafsson, Kristrun R Benediktsdottir, Jeffrey Gulcher, Gisli Masson, Lambertus A Kiemeney, Jose I Mayordomo, Unnur Thorsteinsdottir, Kari Stefansson

Abstract

Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through whole-genome sequencing of 457 Icelanders, were imputed to 41,675 Icelanders genotyped using SNP chips, as well as to their relatives. Sequence variants were tested for association with ovarian cancer (N of affected individuals = 656). We discovered a rare (0.41% allelic frequency) frameshift mutation, c.2040_2041insTT, in the BRIP1 (FANCJ) gene that confers an increase in ovarian cancer risk (odds ratio (OR) = 8.13, P = 2.8 × 10(-14)). The mutation was also associated with increased risk of cancer in general and reduced lifespan by 3.6 years. In a Spanish population, another frameshift mutation in BRIP1, c.1702_1703del, was seen in 2 out of 144 subjects with ovarian cancer and 1 out of 1,780 control subjects (P = 0.016). This allele was also associated with breast cancer (seen in 6/927 cases; P = 0.0079). Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 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 310 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 5 2%
United Kingdom 3 <1%
Norway 1 <1%
Italy 1 <1%
Netherlands 1 <1%
Canada 1 <1%
Germany 1 <1%
Peru 1 <1%
Iceland 1 <1%
Other 0 0%
Unknown 295 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 72 23%
Student > Ph. D. Student 56 18%
Student > Master 34 11%
Student > Bachelor 24 8%
Other 24 8%
Other 46 15%
Unknown 54 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 93 30%
Biochemistry, Genetics and Molecular Biology 66 21%
Medicine and Dentistry 60 19%
Computer Science 4 1%
Neuroscience 4 1%
Other 17 5%
Unknown 66 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 19. 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 11 March 2023.
All research outputs
#1,885,822
of 25,387,189 outputs
Outputs from Nature Genetics
#2,570
of 7,567 outputs
Outputs of similar age
#8,879
of 140,863 outputs
Outputs of similar age from Nature Genetics
#19
of 82 outputs
Altmetric has tracked 25,387,189 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,567 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 43.0. This one has gotten more attention than average, scoring higher than 65% 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 140,863 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 93% of its contemporaries.
We're also able to compare this research output to 82 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.