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

Changes to This Summary (06/10/2019)

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.

Low-Penetrance Genes and Loci

Added Polygenic risk scores for breast and ovarian cancer as a new subsection.

Added Whole-Genome and Whole-Exome Sequencing as a new subsection.

Psychosocial Issues in Inherited Breast and Ovarian Cancer Syndromes

Added text to state that a systematic review found that certain ethnic minority groups including African Americans and Hispanics had more negative views and greater concerns about genetic counseling and testing when compared with whites. African Americans and Hispanics were more likely to believe genetic testing could be used to show their ethnic group was inferior to other groups. Additionally, African Americans and Hispanics were found to have low awareness and knowledge about the importance of genetics in cancer, BRCA status, and genetic testing (cited Hann et al. as reference 16).

Added Katz et al. as reference 30.

Revised text to state that in a study of women with invasive breast cancer diagnosed before age 50 years who were eligible for BRCA1/BRCA2 genetic testing, African Americans were less likely to report a discussion with their health care provider and undergo genetic testing (cited Cragun et al. as reference 44). Also added text to state that this finding is not consistent across all studies. In a study of women aged 20 to 79 years with ductal carcinoma in situ or invasive breast cancer who were eligible for BRCA1/BRCA2 genetic testing, no ethnic differences were detected in receipt of genetic counseling or physician-directed discussion about genetic testing.

The Emotional outcomes in newly diagnosed breast cancer patients subsection was renamed from Emotional outcomes of recently diagnosed individuals.

Revised text to state that it is increasingly common for women with breast cancer to pursue genetic counseling and testing at the time of diagnosis to assist with treatment decision making. Also added text to state that one randomized controlled trial found that patients undergoing rapid genetic counseling and testing felt more actively involved in treatment decision making than those receiving standard care (cited Wevers et al. as reference 140).

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.

About This PDQ Summary

Purpose of This Summary

This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics of breast and gynecologic cancers. It is intended as a resource to inform and assist clinicians who care for cancer patients. It does not provide formal guidelines or recommendations for making health care decisions.

Reviewers and Updates

This summary is reviewed regularly and updated as necessary by the PDQ Cancer Genetics Editorial Board, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).

Board members review recently published articles each month to determine whether an article should:

be discussed at a meeting,
be cited with text, or
replace or update an existing article that is already cited.

Changes to the summaries are made through a consensus process in which Board members evaluate the strength of the evidence in the published articles and determine how the article should be included in the summary.

The lead reviewers for Genetics of Breast and Gynecologic Cancers are:

Doreen Agnese, MD (The Ohio State University)
Kathleen A. Calzone, PhD, RN, AGN-BC, FAAN (National Cancer Institute)
Ilana Cass, MD (Cedars-Sinai Medical Center)
Lee-may Chen, MD (UCSF Helen Diller Family Comprehensive Cancer Center)
Mary B. Daly, MD, PhD (Fox Chase Cancer Center)
Jennifer K. Litton, MD (University of Texas, M.D. Anderson Cancer Center)
Suzanne M. O'Neill, MS, PhD, CGC
Tuya Pal, MD, FACMG, FCCMG (Vanderbilt-Ingram Cancer Center)
Beth N. Peshkin, MS, CGC (Lombardi Comprehensive Cancer Center at Georgetown University Medical Center)
Susan K. Peterson, PhD, MPH (University of Texas, M.D. Anderson Cancer Center)
Mary Beth Terry, PhD (Columbia University Mailman School of Public Health)
Susan T. Vadaparampil, PhD, MPH (H. Lee Moffitt Cancer Center & Research Institute)
Catharine Wang, PhD, MSc (Boston University School of Public Health)

Any comments or questions about the summary content should be submitted to Cancer.gov through the NCI website's Email Us. Do not contact the individual Board Members with questions or comments about the summaries. Board members will not respond to individual inquiries.

Levels of Evidence

Some of the reference citations in this summary are accompanied by a level-of-evidence designation. These designations are intended to help readers assess the strength of the evidence supporting the use of specific interventions or approaches. The PDQ Cancer Genetics Editorial Board uses a formal evidence ranking system in developing its level-of-evidence designations.

Permission to Use This Summary

PDQ is a registered trademark. Although the content of PDQ documents can be used freely as text, it cannot be identified as an NCI PDQ cancer information summary unless it is presented in its entirety and is regularly updated. However, an author would be permitted to write a sentence such as “NCI’s PDQ cancer information summary about breast cancer prevention states the risks succinctly: [include excerpt from the summary].”

The preferred citation for this PDQ summary is:

PDQ® Cancer Genetics Editorial Board. PDQ Genetics of Breast and Gynecologic Cancers. Bethesda, MD: National Cancer Institute. Updated . Available at: https://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq. Accessed . [PMID: 26389210]

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The information in these summaries should not be used as a basis for insurance reimbursement determinations. More information on insurance coverage is available on Cancer.gov on the Managing Cancer Care page.

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