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Hereditary Breast and Ovarian Cancer and Other Hereditary Syndromes: Using Technology to Identify Carriers


Purpose and Methods

Most patients who harbor a genetic mutation for hereditary breast cancer have not been identified, despite the availability of genetic testing. Developing an effective approach to the identification of high-risk individuals is the key to preventing and/or providing early diagnosis of cancer in this patient population. This educational review addresses these issues.

Results and Discussion

Using data available on the internet, and making assumptions regarding the types and results of genetic testing, we have estimated the number of mutation carriers in the country and the number who have been tested and identified as such. Overall, our ability to fund and more effectively manage carriers is weak. A technological solution is discussed.

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Author disclosures: Dr. Hughes gives educational lectures for Myriad genetics, and is one of the originators of HughesRiskApps, a freeware software package that evaluates risk and may eventually generate modest revenues. Dr. Drohan, Dr. Roche, and Dr. Cusack have nothing to disclose.

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Corresponding authors

Correspondence to James C. Cusack Jr. MD or Kevin S. Hughes MD.

Additional information

Acknowledgment: This educational review is part of a series, “Risk Assessment and Genetic Testing for Hereditary Breast Cancer,” which has been supported by an educational grant from Myriad Genetics.

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Drohan, B., Roche, C.A., Cusack, J.C. et al. Hereditary Breast and Ovarian Cancer and Other Hereditary Syndromes: Using Technology to Identify Carriers. Ann Surg Oncol 19, 1732–1737 (2012).

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  • Mutation Carriers
  • Healthcare Information Technology Standards Panel
  • Full Gene Sequencing
  • Hereditary Breast-ovarian Cancer
  • PenRad