Journal article

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

Simone M Rowley, Lyon Mascarenhas, Lisa Devereux, Na Li, Kaushalya C Amarasinghe, Magnus Zethoven, Jue Er Amanda Lee, Alexandra Lewis, James A Morgan, Sharpe Limb, Mary-Anne Young, Paul A James, Alison H Trainer, Ian G Campbell



PURPOSE: The identification of carriers of hereditary breast and ovarian cancer (HBOC) gene variants through family cancer history alone is suboptimal, and most population-based genetic testing studies have been limited to founder mutations in high-risk populations. Here, we determine the clinical utility of identifying actionable variants in a healthy cohort of women. METHODS: Germline DNA from a subset of healthy Australian women participating in the lifepool project was screened using an 11-gene custom sequencing panel. Women with clinically actionable results were invited to attend a familial cancer clinic (FCC) for post-test genetic counseling and confirmatory testing. Outcomes measured..

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Awarded by National Breast Cancer Foundation

Awarded by Cancer Australia

Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

The authors would like to thank S. Hughes, R. Huynh, and H. Saunders for processing DNA samples, and R. Lupat and J. Li for bioinformatics analysis. This work was supported by the National Breast Cancer Foundation (IF-15-004, I.G.C., P.A.J., L.D.); Cancer Australia (APP1107870); the National Health and Medical Research Council of Australia (APP1126679, I.G.C., A.H.T., M-A. Y., P. J.; APP1092856, I.G.C., P.A.J.); and the Victorian Cancer Agency (P.A.J.). The funders had no role in the design and execution of this study.