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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Overview of attention for article published in Human Genetics, May 2011
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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 (91st percentile)
  • High Attention Score compared to outputs of the same age and source (91st percentile)

Mentioned by

blogs
1 blog
twitter
2 X users
googleplus
2 Google+ users

Citations

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18 Dimensions

Readers on

mendeley
69 Mendeley
citeulike
4 CiteULike
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1 Connotea
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Title
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Published in
Human Genetics, May 2011
DOI 10.1007/s00439-011-1003-z
Pubmed ID
Authors

Kate M. Im, Tomas Kirchhoff, Xianshu Wang, Todd Green, Clement Y. Chow, Joseph Vijai, Joshua Korn, Mia M. Gaudet, Zachary Fredericksen, V. Shane Pankratz, Candace Guiducci, Andrew Crenshaw, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M. Sinilnikova, Phuong L. Mai, Mark H. Greene, Marion Piedmonte, Wendy S. Rubinstein, HEBON, Frans B. Hogervorst, Matti A. Rookus, J. Margriet Collée, Nicoline Hoogerbrugge, Christi J. van Asperen, Hanne E. J. Meijers-Heijboer, Cees E. Van Roozendaal, Trinidad Caldes, Pedro Perez-Segura, Anna Jakubowska, Jan Lubinski, Tomasz Huzarski, Paweł Blecharz, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Rosa B. Barkardottir, Marco Montagna, Emma D’Andrea, kConFab, Peter Devilee, Olufunmilayo I. Olopade, Susan L. Neuhausen, Bernard Peissel, Bernardo Bonanni, Paolo Peterlongo, Christian F. Singer, Gad Rennert, Flavio Lejbkowicz, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, Ontario Cancer Genetics Network, Amanda Ewart Toland, Maria Adelaide Caligo, SWE-BRCA, Mary S. Beattie, Salina Chan, UKFOCR, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Catherine Phelan, Steven Narod, Esther M. John, John L. Hopper, Saundra S. Buys, Mary B. Daly, Melissa C. Southey, Mary-Beth Terry, Nadine Tung, Thomas v. O. Hansen, Ana Osorio, Javier Benitez, Mercedes Durán, Jeffrey N. Weitzel, Judy Garber, Ute Hamann, EMBRACE, Susan Peock, Margaret Cook, Clare T. Oliver, Debra Frost, Radka Platte, D. Gareth Evans, Ros Eeles, Louise Izatt, Joan Paterson, Carole Brewer, Shirley Hodgson, Patrick J. Morrison, Mary Porteous, Lisa Walker, Mark T. Rogers, Lucy E. Side, Andrew K. Godwin, Rita K. Schmutzler, Barbara Wappenschmidt, Yael Laitman, Alfons Meindl, Helmut Deissler, Raymonda Varon-Mateeva, Sabine Preisler-Adams, Karin Kast, Laurence Venat-Bouvet, Dominique Stoppa-Lyonnet, Georgia Chenevix-Trench, Douglas F. Easton, Robert J. Klein, Mark J. Daly, Eitan Friedman, Michael Dean, Andrew G. Clark, David M. Altshuler, Antonis C. Antoniou, Fergus J. Couch, Kenneth Offit, Bert Gold

Abstract

Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele frequencies in the surrounding genomic regions reflect adaptive or balancing selection. Such proposals predict long-range linkage disequilibrium (LD) resulting from a selective sweep, although genetic drift in a founder population may also act to create long-distance LD. To date, few studies have used the tools of statistical genomics to examine the likelihood of long-range LD at a deleterious locus in a population that faced a genetic bottleneck. We studied the genotypes of hundreds of women from a large international consortium of BRCA1 and BRCA2 mutation carriers and found that AJ women exhibited long-range haplotypes compared to CNJ women. More than 50% of the AJ chromosomes with the BRCA1 185delAG mutation share an identical 2.1 Mb haplotype and nearly 16% of AJ chromosomes carrying the BRCA2 6174delT mutation share a 1.4 Mb haplotype. Simulations based on the best inference of Ashkenazi population demography indicate that long-range haplotypes are expected in the context of a genome-wide survey. Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCA2 regions of Ashkenazi Jews.

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 69 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Russia 1 1%
Argentina 1 1%
Australia 1 1%
Unknown 66 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 10 14%
Researcher 8 12%
Professor > Associate Professor 7 10%
Student > Master 7 10%
Professor 6 9%
Other 17 25%
Unknown 14 20%
Readers by discipline Count As %
Agricultural and Biological Sciences 24 35%
Medicine and Dentistry 12 17%
Biochemistry, Genetics and Molecular Biology 7 10%
Unspecified 2 3%
Social Sciences 2 3%
Other 6 9%
Unknown 16 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 15. 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 08 November 2014.
All research outputs
#2,076,049
of 22,668,244 outputs
Outputs from Human Genetics
#168
of 2,948 outputs
Outputs of similar age
#9,718
of 111,532 outputs
Outputs of similar age from Human Genetics
#3
of 34 outputs
Altmetric has tracked 22,668,244 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,948 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. 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 111,532 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 91% of its contemporaries.
We're also able to compare this research output to 34 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 91% of its contemporaries.