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Genetics of Breast and Gynecologic Cancers (PDQ®)

Changes to This Summary (02/06/2015)

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.

High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes

Updated National Comprehensive Cancer Network (NCCN) as reference 88.

Revised text to include the National Society of Genetic Counselors on the list of professional organizations and expert panels that have developed clinical criteria and practice guidelines that can be helpful to health care providers in identifying individuals who may have a BRCA1 or BRCA2 mutation (cited Hampel et al. as reference 90).

Low- and Moderate-Penetrance Genes Associated With Breast and/or Ovarian Cancer

Added Fernandes et al. as reference 73.

Clinical Management of BRCA Mutation Carriers

Updated NCCN as reference 3.

Added text about a single-institution cohort study that found that 135 of 364 patients (37.1%) with epithelial ovarian cancer who underwent BRCA mutation testing carried a germline BRCA1 or BRCA2 mutation; of the 135 BRCA1/2 carriers, 12 (8.9%) developed breast cancer (cited Gangi et al. as reference 322); the majority of these cancers were detected with mammogram or clinical exam, suggesting additional surveillance or prophylactic surgery may be of questionable value.

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.

  • Updated: February 6, 2015