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

SECTIONS

Changes to This Summary (05/18/2017)

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 as Cybulski et al. as reference 50.

Added text to state that breastfeeding for more than 12 months may be associated with a reduction in ovarian cancer among carriers of BRCA1/BRCA2 pathogenic variants (cited Kotsopoulos et al. as reference 70).

Added text about expansion of the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm model to include additional pathogenic variants, including CHEK2, ATM, and PALB2 (cited Lee et al. as reference 141).

High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes

Added text to state that a study of Ashkenazi Jewish (AJ) individuals who had comprehensive testing as their initial test or who had reflex testing ordered only if testing for the three common AJ founder pathogenic variants was negative suggests that the true incidence of nonfounder pathogenic variants is closer to 7% (cited Rosenthal et al. as reference 52).

Added text about results of 286 TP53 pathogenic variant–positive individuals in the National Cancer Institute’s Li-Fraumeni Syndrome Study that indicated a cumulative cancer incidence of almost 100% by age 70 years for both males and females (cited Mai et al. as reference 358).

Added Table 9, Cumulative Cancer Risks for the Most Common Li-Fraumeni Syndrome-Associated Cancers.

Added Snyder et al., Nguyen-Dumont et al., and Damiola et al. as references 425, 426, and 427 respectively.

Clinical Management of Carriers of BRCA Pathogenic Variants

Added text to state that the timing of genetic testing and knowledge of BRCA pathogenic variant status may influence surgical decision making and may prevent subsequent surgeries. Therefore, it is important to consider genetic testing in advance of surgery when possible in individuals at increased risk of carrying a BRCA pathogenic variant (cited Chiba et al. as reference 56).

Added text about a study that confirmed the malignant potential of serous tubal intraepithelial carcinoma (STIC) lesions. While 3 of 243 women with benign pathology at risk-reducing salpingo-oophorectomy subsequently developed primary peritoneal carcinoma, 2 of 9 women with STIC developed high-grade pelvic serous carcinoma after a median follow-up time of 63 months (cited Zakhour et al. as reference 199).

Added text about a case-control study of women with pathogenic variants in BRCA1 that demonstrated maximum benefit after 5 years of oral contraceptive (OC) use, while women with pathogenic variants in BRCA2 seemed to reach maximum benefit after 3 years of OC use (cited Kotsopoulos et al. as reference 227).

Psychosocial Issues in Inherited Breast and Ovarian Cancer Syndromes

Revised text to state that formal, objective evaluation of emotional outcomes in recipients of genetic counseling are well documented.

Added text about a study conducted in Austria that noted that certain subgroups of counselees experienced greater distress, including those who were older, had a more recent cancer diagnosis, or those who had received counseling but declined BRCA testing (cited Oberguggenberger et al. as reference 106).

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.

< Previous section
Psychosocial Issues in Inherited Breast and Ovarian Cancer Syndromes

Next section >
About This PDQ Summary