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Genetics of Breast and Ovarian Cancer (PDQ®)

  • Last Modified: 02/20/2014

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Changes to This Summary (02/20/2014)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.


Updated statistics with estimated new cases and deaths of breast cancer and ovarian cancer for 2014 (cited American Cancer Society as reference 1).

High-Penetrance Breast and/or Ovarian Cancer Susceptibility Genes

Added Modifiers of Risk in BRCA1 and BRCA2 Mutation Carriers as a new subsection.

Revised text to state that the prevalence of germline BRCA1 mutations in women with triple-negative breast cancer is significant, both in women undergoing clinical genetic testing and in unselected triple-negative patients, with mutations reported in 9% to 35% (cited Rummel et al. as reference 245). Also added text to state that in an unselected sample, BRCA1 mutations were detected in 16 of 182 women (9%) with triple-negative breast cancer who were aged 26 to 69 years at diagnosis; 5 of the 16 women were diagnosed at a later age and/or lacked additional risk factors such as significant family histories.

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ NCI's Comprehensive Cancer Database pages.