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

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Changes to This Summary (05/16/18)

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.

Introduction

Added Ovarian cancer diagnosis as a new subsection.

Added text about a study of 35,409 women with breast cancer tested with the Myriad 25-gene panel, in which a pathogenic variant was found in 9.3% of women (cited Buys et al. as reference 168). Among that 9.3%, 48.5% of the women carried a pathogenic variant in BRCA1 or BRCA2; the majority of other breast cancer genes with pathogenic variants identified included CHEK2, ATM, and PALB2. The rate of pathogenic variants was higher in women with triple-negative breast cancer diagnosed before age 40 years.

High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes

Added Population screening as a new subsection.

Added text about a study from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 group that looked at the phenotype of women with breast cancer who had inherited pathogenic variants in both BRCA1and BRCA2 (cited Rebbeck et al. as reference 134) in which the authors concluded that women who inherit pathogenic variants in both BRCA1and BRCA2 may be managed similarly to carriers of only a BRCA1 variant.

Added text about a cohort study of 116 individuals with a germline TP53pathogenic variant who were evaluated yearly at the National Institutes of Health Clinical Center using multimodality screening with and without gadolinium. Baseline screening identified a cancer in eight patients with a false-positive rate of 34.5% for magnetic resonance imaging (cited Mai et al. as reference 367).

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

Added text to state that there is insufficient evidence to recommend against radiation therapy in carriers of a single ATM pathogenic variant.

Clinical Management of Carriers of BRCA Pathogenic Variants

Revised Table 14, Available Clinical Practice Guidelines for Hereditary Breast and Ovarian Cancer (HBOC) (cited Committee on Practice Bulletins–Gynecology, Committee on Genetics, Society of Gynecologic Oncology as reference 336).

Psychosocial Issues in Inherited Breast and Ovarian Cancer Syndromes

Added text about a study of 561 first-degree relatives of women who had undergone BRCA1/BRCA2 genetic testing and the ability of the relatives to accurately recall the test results (cited Daly et al. as reference 151).

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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