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

SM Rowley, L Mascarenhas, L Devereux, N Li… - Genetics in …, 2019 - Elsevier
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 …
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