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


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.

Type Journal
ISBN 1530-0366
Authors Rowley, Simone M.; Mascarenhas, Lyon; Devereux, Lisa; Li, Na; Amarasinghe, Kaushalya C.; Zethoven, Magnus; Lee, Jue Er Amanda; Lewis, Alexandra; Morgan, James A.; Limb, Sharne; Young, Mary-Anne; James, Paul A.; Trainer, Alison H.; Campbell, Ian G.
Responsible Garvan Author Mary-Anne Young
Published Date 2019-04-01
Published Volume 21
Published Issue 4
Published Pages 913-922
Status Published in-print
DOI 10.1038/s41436-018-0277-0
URL link to publisher's version