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Genetics of Breast and Ovarian Cancer (PDQ®)

Health Professional Version
Last Modified: 10/02/2014

Changes to This Summary (10/02/2014)

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.

High-Penetrance Breast and/or Ovarian Cancer Susceptibility Genes

Revised text to state that triple-negative breast cancer diagnosed in women younger than 60 years is a personal characteristic associated with an increased likelihood of a BRCA1 and/or BRCA2 mutation.

Added Greenup et al. al as reference 84.

Added text about the United Kingdom Familial Ovarian Cancer Screening Study, in which 3,563 women with an estimated 10% or higher lifetime risk of ovarian cancer were screened with annual ultrasound and serum CA-125 measurements; 4 of 13 screen-detected cancers were stage I or II, and women screened within the previous year were less likely to have higher than stage IIIC disease (cited Rosenthal et al. as reference 417).

Added Diffuse gastric and lobular breast cancer syndrome as a new subsection.

Added text to state that females with Peutz-Jeghers syndrome (PJS) are predisposed to the development of cervical adenoma malignum, a rare and very aggressive adenocarcinoma of the cervix (cited Srivatsa et al. as reference 641). Also added text to state that females with PJS commonly develop benign ovarian sex-cord tumors with annular tubules, whereas males with PJS are predisposed to development of Sertoli-cell testicular tumors; although neither of these two tumor types is malignant, they can cause symptoms related to increased estrogen production (cited Scully as reference 642).

The PALB2 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.