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Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

Overview of attention for article published in Genetics and Molecular Biology, August 2012
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Title
Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil
Published in
Genetics and Molecular Biology, August 2012
DOI 10.1590/s1415-47572012000400009
Pubmed ID
Authors

Crisle Vignol Dillenburg, Isabel Cristina Bandeira, Taiana Valente Tubino, Luciana Grazziotin Rossato, Eleonora Souza Dias, Ana Cristina Bittelbrunn, Sandra Leistner-Segal

Abstract

Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck", which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Brazil 1 3%
Unknown 38 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 9 23%
Student > Bachelor 8 21%
Student > Doctoral Student 5 13%
Researcher 4 10%
Professor 2 5%
Other 6 15%
Unknown 5 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 17 44%
Biochemistry, Genetics and Molecular Biology 7 18%
Medicine and Dentistry 5 13%
Nursing and Health Professions 2 5%
Arts and Humanities 1 3%
Other 2 5%
Unknown 5 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 27 July 2015.
All research outputs
#8,534,976
of 25,374,647 outputs
Outputs from Genetics and Molecular Biology
#145
of 771 outputs
Outputs of similar age
#63,496
of 187,107 outputs
Outputs of similar age from Genetics and Molecular Biology
#2
of 14 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 771 research outputs from this source. They receive a mean Attention Score of 4.8. This one has gotten more attention than average, scoring higher than 61% 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 187,107 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 64% of its contemporaries.