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Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Overview of attention for article published in BMC Cancer, May 2015
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Title
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population
Published in
BMC Cancer, May 2015
DOI 10.1186/s12885-015-1392-9
Pubmed ID
Authors

Grazia Palomba, Angela Loi, Eleonora Porcu, Antonio Cossu, Ilenia Zara, Mario Budroni, Mariano Dei, Sandra Lai, Antonella Mulas, Nina Olmeo, Maria Teresa Ionta, Francesco Atzori, Gianmauro Cuccuru, Maristella Pitzalis, Magdalena Zoledziewska, Nazario Olla, Mario Lovicu, Marina Pisano, Gonçalo R. Abecasis, Manuela Uda, Francesco Tanda, Kyriaki Michailidou, Douglas F. Easton, Stephen J. Chanock, Robert N. Hoover, David J. Hunter, David Schlessinger, Serena Sanna, Laura Crisponi, Giuseppe Palmieri

Abstract

Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p < 10(-6) level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10(-5), we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16x10(-5)), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts. This study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 2%
Unknown 43 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 23%
Student > Ph. D. Student 8 18%
Student > Bachelor 5 11%
Student > Master 4 9%
Student > Doctoral Student 3 7%
Other 7 16%
Unknown 7 16%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 14 32%
Agricultural and Biological Sciences 11 25%
Computer Science 4 9%
Medicine and Dentistry 3 7%
Mathematics 1 2%
Other 1 2%
Unknown 10 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 12 May 2015.
All research outputs
#17,756,606
of 22,803,211 outputs
Outputs from BMC Cancer
#4,958
of 8,297 outputs
Outputs of similar age
#179,350
of 263,961 outputs
Outputs of similar age from BMC Cancer
#140
of 234 outputs
Altmetric has tracked 22,803,211 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 8,297 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 34th percentile – i.e., 34% 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 263,961 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 234 others from the same source and published within six weeks on either side of this one. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.