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

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Changes to This Summary (03/12/18)

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 Considerations When Conducting Genetic Testing as a new subsection.

High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes

Updated National Comprehensive Cancer Network (NCCN) as reference 93.

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

Added text to state that a case-control study from Belarus and Germany looked at the most common pathogenic variant in RECQL and found it to be linked to estrogen receptor–positive breast cancer. The odds ratio (OR) in this study alone was 1.23, but in a meta-analysis with a Polish study, the OR was 2.51 (cited Bogdanova et al. as reference 90).

Clinical Management of Carriers of BRCA Pathogenic Variants

Revised text to state that the NCCN currently recommends annual breast magnetic resonance imaging (MRI) screening between ages 25 and 29 years and annual breast MRI and mammography (with consideration of tomosynthesis) between ages 30 and 75 years for BRCApathogenic variant carriers (cited NCCN as reference 33).

The Risk-reducing mastectomy subsection was extensively revised.

Psychosocial Issues in Inherited Breast and Ovarian Cancer Syndromes

Added text to state that other studies have shown that physician referral of patients who meet U.S. Preventive Services Task Force guidelines for BRCA genetic counseling has been suboptimal (cited Bellcross et al. as reference 22).

Added text to state that the uptake of BRCA testing to inform surgical treatment decisions when offered appears to be high in research cohorts; however, findings from other studies suggest that testing is underutilized in clinical practice to inform breast cancer treatment decisions (cited Schwartz et al., Levy et al., Weitzel et al., Kurian et al., and Childers et al. as references 2, 6, 23, 24, and 25, respectively). Also, added text to state that barriers to the use of BRCA testing to inform surgical treatment decisions, including lack of physician referral of newly diagnosed patients for genetic counseling, type of insurance coverage, and challenges in the timing and coordination of testing, have been reported (cited Pal et al., Weldon et al., and Hafertepen et al. as references 26, 27, and 28, respectively).

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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