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Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study

Abstract

The ‘common variant, common disease’ model predicts that a significant component of hereditary breast cancer unexplained by pathogenic variants in moderate or high-penetrance genes is due to the cumulative effect of common risk variants in DNA (polygenic risk). Assessing a woman’s breast cancer risk by testing for common risk variants can provide useful information for women who would otherwise receive uninformative results by traditional monogenic testing. Despite increasing support for the utility of common risk variants in hereditary breast cancer, research findings have not yet been integrated into clinical practice. Translational research is therefore critical to ensure results are effectively communicated, and that women do not experience undue adverse psychological outcomes.

Type Journal
ISBN 1471-2407
Authors Yanes, Tatiane; Meiser, Bettina; Young, Mary-Anne; Kaur, Rajneesh; Mitchell, Gillian; Barlow-Stewart, Kristine; Roscioli, Tony; Halliday, Jane; James, Paul
Publisher Name BMC CANCER
Published Date 2017-07-18
Published Volume 17
Published Issue 1
Published Pages 491
Status Published in-print
DOI 10.1186/s12885-017-3485-0
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/28720130