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Electronically ascertained extended pedigrees in breast cancer genetic counseling

Overview of attention for article published in Familial Cancer, September 2018
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Title
Electronically ascertained extended pedigrees in breast cancer genetic counseling
Published in
Familial Cancer, September 2018
DOI 10.1007/s10689-018-0105-3
Pubmed ID
Authors

V. Stefansdottir, H. Skirton, O. Th. Johannsson, H. Olafsdottir, G. H. Olafsdottir, L. Tryggvadottir, J. J. Jonsson

Abstract

A comprehensive pedigree, usually provided by the counselee and verified by medical records, is essential for risk assessment in cancer genetic counseling. Collecting the relevant information is time-consuming and sometimes impossible. We studied the use of electronically ascertained pedigrees (EGP). The study group comprised women (n = 1352) receiving HBOC genetic counseling between December 2006 and December 2016 at Landspitali in Iceland. EGP's were ascertained using information from the population-based Genealogy Database and Icelandic Cancer Registry. The likelihood of being positive for the Icelandic founder BRCA2 pathogenic variant NM_000059.3:c.767_771delCAAAT was calculated using the risk assessment program Boadicea. We used this unique data to estimate the optimal size of pedigrees, e.g., those that best balance the accuracy of risk assessment using Boadicea and cost of ascertainment. Sub-groups of randomly selected 104 positive and 105 negative women for the founder BRCA2 PV were formed and Receiver Operating Characteristics curves compared for efficiency of PV prediction with a Boadicea score. The optimal pedigree size included 3° relatives or up to five generations with an average no. of 53.8 individuals (range 9-220) (AUC 0.801). Adding 4° relatives did not improve the outcome. Pedigrees including 3° relatives are difficult and sometimes impossible to generate with conventional methods. Pedigrees ascertained with data from pre-existing genealogy databases and cancer registries can save effort and contain more information than traditional pedigrees. Genetic services should consider generating EGP's which requires access to an accurate genealogy database and cancer registry. Local data protection laws and regulations have to be addressed.

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Mendeley readers

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Geographical breakdown

Country Count As %
Unknown 4 100%

Demographic breakdown

Readers by professional status Count As %
Lecturer 2 50%
Unspecified 2 50%
Readers by discipline Count As %
Unspecified 2 50%
Biochemistry, Genetics and Molecular Biology 1 25%
Nursing and Health Professions 1 25%

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 26 September 2018.
All research outputs
#12,023,724
of 13,560,184 outputs
Outputs from Familial Cancer
#329
of 384 outputs
Outputs of similar age
#228,478
of 265,003 outputs
Outputs of similar age from Familial Cancer
#6
of 6 outputs
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