Publications
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility
Abstract
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 |
| Publisher Name | GENETICS IN MEDICINE |
| 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 | https://www.ncbi.nlm.nih.gov/pubmed/30254378 |