Population genetic testing for cancer susceptibility: founder mutations to genomes View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-01

AUTHORS

William D. Foulkes, Bartha Maria Knoppers, Clare Turnbull

ABSTRACT

The current standard model for identifying carriers of high-risk mutations in cancer-susceptibility genes (CSGs) generally involves a process that is not amenable to population-based testing: access to genetic tests is typically regulated by health-care providers on the basis of a labour-intensive assessment of an individual's personal and family history of cancer, with face-to-face genetic counselling performed before mutation testing. Several studies have shown that application of these selection criteria results in a substantial proportion of mutation carriers being missed. Population-based genetic testing has been proposed as an alternative approach to determining cancer susceptibility, and aims for a more-comprehensive detection of mutation carriers. Herein, we review the existing data on population-based genetic testing, and consider some of the barriers, pitfalls, and challenges related to the possible expansion of this approach. We consider mechanisms by which population-based genetic testing for cancer susceptibility could be delivered, and suggest how such genetic testing might be integrated into existing and emerging health-care structures. The existing models of genetic testing (including issues relating to informed consent) will very likely require considerable alteration if the potential benefits of population-based genetic testing are to be fully realized. More... »

PAGES

41-54

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nrclinonc.2015.173

    DOI

    http://dx.doi.org/10.1038/nrclinonc.2015.173

    DIMENSIONS

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    PUBMED

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