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