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Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Overview of attention for article published in PLoS Genetics, March 2013
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (94th percentile)
  • High Attention Score compared to outputs of the same age and source (88th percentile)

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3 blogs
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6 X users

Citations

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106 Dimensions

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160 Mendeley
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3 CiteULike
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Title
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
Published in
PLoS Genetics, March 2013
DOI 10.1371/journal.pgen.1003173
Pubmed ID
Authors

Mia M. Gaudet, Karoline B. Kuchenbaecker, Joseph Vijai, Robert J. Klein, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Alison M. Dunning, Andrew Lee, Joe Dennis, Sue Healey, Ed Dicks, Penny Soucy, Olga M. Sinilnikova, Vernon S. Pankratz, Xianshu Wang, Ronald C. Eldridge, Daniel C. Tessier, Daniel Vincent, Francois Bacot, Frans B. L. Hogervorst, Susan Peock, Dominique Stoppa-Lyonnet, Paolo Peterlongo, Rita K. Schmutzler, Katherine L. Nathanson, Marion Piedmonte, Christian F. Singer, Mads Thomassen, Thomas v. O. Hansen, Susan L. Neuhausen, Ignacio Blanco, Mark H. Greene, Judith Garber, Jeffrey N. Weitzel, Irene L. Andrulis, David E. Goldgar, Emma D'Andrea, Trinidad Caldes, Heli Nevanlinna, Ana Osorio, Elizabeth J. van Rensburg, Adalgeir Arason, Gad Rennert, Ans M. W. van den Ouweland, Annemarie H. van der Hout, Carolien M. Kets, Cora M. Aalfs, Juul T. Wijnen, Margreet G. E. M. Ausems, Debra Frost, Steve Ellis, Elena Fineberg, Radka Platte, D. Gareth Evans, Chris Jacobs, Julian Adlard, Marc Tischkowitz, Mary E. Porteous, Francesca Damiola, Lisa Golmard, Laure Barjhoux, Michel Longy, Muriel Belotti, Sandra Fert Ferrer, Sylvie Mazoyer, Amanda B. Spurdle, Siranoush Manoukian, Monica Barile, Maurizio Genuardi, Norbert Arnold, Alfons Meindl, Christian Sutter, Barbara Wappenschmidt, Susan M. Domchek, Georg Pfeiler, Eitan Friedman, Uffe Birk Jensen, Mark Robson, Sohela Shah, Conxi Lazaro, Phuong L. Mai, Javier Benitez, Melissa C. Southey, Marjanka K. Schmidt, Peter A. Fasching, Julian Peto, Manjeet K. Humphreys, Qin Wang, Kyriaki Michailidou, Elinor J. Sawyer, Barbara Burwinkel, Pascal Guénel, Stig E. Bojesen, Roger L. Milne, Hermann Brenner, Magdalena Lochmann, Kristiina Aittomäki, Thilo Dörk, Sara Margolin, Arto Mannermaa, Diether Lambrechts, Jenny Chang-Claude, Paolo Radice, Graham G. Giles, Christopher A. Haiman, Robert Winqvist, Peter Devillee, Montserrat García-Closas, Nils Schoof, Maartje J. Hooning, Angela Cox, Paul D. P. Pharoah, Anna Jakubowska, Nick Orr, Anna González-Neira, Guillermo Pita, M. Rosario Alonso, Per Hall, Fergus J. Couch, Jacques Simard, David Altshuler, Douglas F. Easton, Georgia Chenevix-Trench, Antonis C. Antoniou, Kenneth Offit

Abstract

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9 × 10(-8)). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 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 160 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
China 2 1%
Finland 1 <1%
United Kingdom 1 <1%
Uruguay 1 <1%
Belgium 1 <1%
Egypt 1 <1%
Greece 1 <1%
United States 1 <1%
Unknown 151 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 28 18%
Student > Ph. D. Student 27 17%
Student > Bachelor 16 10%
Professor > Associate Professor 14 9%
Professor 12 8%
Other 38 24%
Unknown 25 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 45 28%
Medicine and Dentistry 43 27%
Biochemistry, Genetics and Molecular Biology 27 17%
Neuroscience 2 1%
Engineering 2 1%
Other 10 6%
Unknown 31 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 25. 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 January 2024.
All research outputs
#1,528,768
of 25,461,852 outputs
Outputs from PLoS Genetics
#1,178
of 8,970 outputs
Outputs of similar age
#11,790
of 210,477 outputs
Outputs of similar age from PLoS Genetics
#24
of 207 outputs
Altmetric has tracked 25,461,852 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 8,970 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.8. This one has done well, scoring higher than 86% 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 210,477 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 94% of its contemporaries.
We're also able to compare this research output to 207 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.