Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version

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Changes to This Summary (11/22/2016)

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.

Penetrance of Inherited Susceptibility to Hereditary Breast and/or Gynecologic Cancers

Added text about a framework for cancer risk management among individuals with pathogenic variants in novel genes that incorporates data on age-specific, lifetime, and absolute cancer risks (cited Tung et al. as reference 2).

High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes

Added text to state that the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) model is being expanded to incorporate additional risk variants to better predict pathogenic variant status and to improve the accuracy of breast cancer and ovarian cancer risk estimates (cited Jervis et al. as reference 107).

Added text to state that in an Australian study of 122 families with a pathogenic variant in BRCA1, large genomic rearrangement variants were associated with higher-risk features in breast and ovarian cancers, including younger age at breast cancer diagnosis and higher incidence of bilateral breast cancer (cited James et al. as reference 242).

Moderate-Penetrance Genes Associated With Breast and/or Gynecologic Cancer

Added text to state that a large Dutch study of 86,975 individuals reported an increased risk of cancers other than breast and colon for carriers of the CHEK2 1100delC pathogenic variant (cited Näslund-Koch et al. as reference 41), although additional studies are needed to further refine these risks.

Clinical Management of Carriers of BRCA Pathogenic Variants

The Systemic therapy for ovarian cancer subsection was comprehensively reviewed and extensively revised.

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.

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