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Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

European journal of human genetics : EJHG - 1 Dec 2024

Fortuno Cristina, Cops Elisa J, Davidson Aimee L, Hadler Johanna, Innella Giovanni, McKenzie Maddison E, Parsons Michael, Campbell Ainsley M, Dubowsky Andrew, Fargas Verna, Field Michael J, Mar Fan Helen G, Nichols Cassandra B, Poplawski Nicola K, Warwick Linda, Williams Rachel, Beshay Victoria, Edwards Caitlin, Johns Andrea, McPhillips Mary, Kumar Vanessa Siva, Scott Rodney, Williams Mark, Scott Hamish, James Paul A, Spurdle Amanda B

Abstract excerpt

Breast cancer remains a significant global health challenge. In Australia, the adoption of publicly-funded multigene panel testing for eligible cancer patients has increased accessibility to personalised care, yet has also highlighted the increasing prevalence of variants of uncertain significance (VUS), complicating clinical decision-making. This project aimed to explore the spectrum and actionability of breast...

Topics

Humans
Breast Neoplasms
Australia
Female
Genetic Testing
Genetic Predisposition to Disease

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39402389
DOI: 10.1038/s41431-024-01705-9
PMCID: PMC11607406

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