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

Changes to This Summary (04/08/2019)

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.

Introduction

Updated statistics with estimated new breast, ovarian, and endometrial cancer cases and deaths for 2019 (cited American Cancer Society as reference 1).

Updated National Comprehensive Cancer Network (NCCN) as reference 149.

Genes Associated With Breast and/or Gynecologic Cancer Susceptibility

Added this new section.

High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes

Updated NCCN as reference 95.

The Lynch syndrome subsection was extensively revised.

Added text to state that the lifetime risk of endometrial cancer is estimated to be between 19% and 28%, depending on the cohort studied, with an increased risk of premenopausal onset (cited Pilarski et al. as reference 376). Because of the low prevalence of PTENpathogenic variants in the population, the proportion of endometrial cancer attributable to Cowden syndrome is small. There are no data that link PTEN pathogenic variants to an increased risk of ovarian cancer.

Clinical Management of Carriers of BRCA Pathogenic Variants

Updated NCCN as reference 33.

Added text to state that the Prospective Outcomes in Sporadic versus Hereditary breast cancer study recruited 2,733 women, 12% of whom had a BRCA1/BRCA2 pathogenic variant. Carriers showed no significant difference in outcome from noncarriers (cited Copson et al. as reference 266). However, the cohort of patients with triple-negative breast cancer had a better overall survival than noncarriers at 2 years, but not a statistically significant difference at 5 and 10 years.

Updated Table 13: Available Clinical Practice Guidelines for Hereditary Breast and Ovarian Cancer to include the European Society of Medical Oncology as a resource.

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 <MM/DD/YYYY>. Available at: https://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq. Accessed <MM/DD/YYYY>. [PMID: 26389210]

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Disclaimer

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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