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Genetics of Breast and Ovarian Cancer (PDQ®)

Health Professional Version
Last Modified: 07/11/2014

Changes to This Summary (07/11/2014)

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.

High-Penetrance Breast and/or Ovarian Cancer Susceptibility Genes

Added text about a study that evaluated Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA), BRCAPRO, IBIS, and eCLAUS for their diagnostic accuracy in predicting BRCA1/2 mutations in a cohort of 7,352 German families; BRCAPRO and BOADICEA had significantly higher diagnostic accuracy than IBIS or eCLAUS (cited Fischer et al. as reference 107).

Revised Table 3, Characteristics of Common Models for Estimating the Likelihood of a BRCA1/2 Mutation, to state that BRCAPRO may underestimate the risk of BRCA mutations in high-grade serous ovarian cancers but overestimate the risk for other histologies (cited Daniels et al. as reference 113).

Revised text to state that the National Comprehensive Cancer Network (NCCN) currently recommends that BRCA1 and BRCA2 mutation carriers undergo annual magnetic resonance imaging (MRI) screening between ages 25 and 29 years and annual MRI and mammography between ages 30 and 75 years.

Added text about a retrospective study of 593 BRCA1 and BRCA2 mutation carriers that included 105 women with unilateral breast cancer who underwent contralateral risk-reducing mastectomy and had a 10-year survival rate of 89%; women who did not undergo contralateral risk-reducing surgery had a 10-year survival rate of 71% (cited Evans et al. as reference 341).

Added text about a retrospective study of 390 women with early-stage breast cancer who were from families with a known BRCA1/2 mutation that found a significant improvement in survival for women who underwent bilateral mastectomy compared with those who chose unilateral mastectomy (cited Metcalfe et al. as reference 342).

Added text about the controversial role of concomitant hysterctomy at the time of risk-reducing salpingo-oophorectomy (RRSO) in BRCA1/2 mutation carriers (cited Segev et al. as reference 459).

Revised text to state that NCCN recommends prostate cancer screening for BRCA2 carriers starting at age 40 years.

Revised text to state that lifetime breast cancer risk is estimated to be between 25% and 50% among women with Cowden syndrome (cited Hobert et al. as reference 611). Also added text to state that other studies have reported risks as high as 85% (cited Tan et al., Bubien et al., and Nieuwenhuis et al. as references 612, 613, and 614, respectively); however, there are concerns regarding selection bias in these studies.

Psychosocial Issues in Inherited Breast Cancer Syndromes

Revised Table 14, Uptake of Risk-reducing Mastectomy and/or Breast Screening Among BRCA1 and BRCA2 Mutation Carriers, to include the results of a U.S. study that found that breast surveillance decreased significantly from years 1 through 5 of follow-up (cited Garcia et al. as reference 220).

Revised Table 15, Uptake of RRSO and/or Gynecologic Screening Among BRCA1 and BRCA2 Mutation Carriers, to include the results of a U.S. study that found that ovarian surveillance decreased significantly from years 1 through 5 of follow-up.

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.