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

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Changes to This Summary (05/26/2016)

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 text to state that no significant association was observed between prior mammography exposure and breast cancer risk in a prospective study of 1,844 BRCA1 carriers and 502 BRCA2 carriers without a breast cancer diagnosis at time of study entry; average follow-up time was 5.3 years (cited Giannakeas et al. as reference 43).

Multigene (Panel) Testing

Added this new section.

High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes

Revised text to state that unlike high-grade serous carcinomas, low-grade serous ovarian cancers are less likely to be part of theBRCA1/BRCA2 spectrum (cited Norquist et al. as reference 292).

Added text to state that a predictive model is available that uses clinical criteria to estimate the probability of a PTEN mutation; a cost-effectiveness analysis suggests that germline PTEN testing is cost effective if the probability of a mutation is greater than 10% (cited Ngeow et al. as reference 349).

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

Revised text to state that RAD51C mutations have also been reported in Australian, British, Finnish, and Spanish non-BRCA1/2 ovarian cancer–only and breast/ovarian cancer families, and in unselected ovarian cancer cases, with frequencies ranging from 0% to 3% in these populations (cited Blanco et al. and Norquist et al. as references 67 and 68, respectively).

Clinical Management of BRCA Mutation Carriers

Revised text to state that three studies have failed to find convincing evidence of an association between ionizing radiation exposure and breast cancer risk in BRCA1 and BRCA2mutation carriers (cited Giannakeas et al. as reference 28). Also added text to state that a prospective study of 1,844 BRCA1 carriers and 502 BRCA2 carriers without a breast cancer diagnosis at study entry, with an average follow-up time of 5.3 years, observed no significant association between prior mammography exposure and breast cancer risk. Additional subgroup analyses in women younger than 30 years demonstrated no association with breast cancer risk.

Added text about a Dutch cohort of 583 BRCA mutation carriers with unilateral breast cancer who were evaluated for the effect of contralateral risk-reducing mastectomy (RRM) (cited Heemskerk-Gerritsen et al. as reference 61). With a median follow-up of 11.4 years, 242 (42%) of the patients underwent RRM at differing times after their diagnoses; improved overall survival was observed in the RRM group, with improvements most pronounced in those diagnosed before age 40 years, with low tumor grade, and non–triple negative subtype.

Added text about a study of 177 nipple-sparing mastectomies in 89 BRCA mutation carriers performed between 2005 and 2013 with excellent local control rates and no local recurrences or newly diagnosed breast cancers (cited Manning et al. as reference 76).

Revised the level of evidence for risk-reducing mastectomy in BRCA mutation carriers tolevel of evidence 3ai.

Added text to state that a meta-analysis confirmed the impact of risk-reducing salpingo-oophorectomy on all-cause mortality in BRCA1 and BRCA2 mutation carriers, including those with and without a personal history of breast cancer (cited Marchetti et al. as reference 87).

Added van den Broek et al. as reference 253.

Added text about a study of 89 BRCA1 carriers and 175 noncarriers with triple-negative breast cancer in which BRCA1 mutation status was not an independent predictor of survival after adjusting for age, oophorectomy, and RRM (cited Tung et al. as reference 260).

Added text about a Dutch cohort of 6,294 patients with invasive breast cancer diagnosed before age 50 years, and a median follow-up of 12.5 years, in which the 10-year risks of contralateral breast cancer (CBC) were 21.1% for BRCA1 carriers, 10.8% for BRCA2 carriers, and 5.1% for noncarriers.

Added text about a systematic review and quantitative meta-analysis of 18 retrospective and 2 prospective cohort studies that reported 5-year cumulative risks of CBC of 15% inBRCA1 carriers and 9% in BRCA2 carriers (cited Molina-Montes et al. as reference 304); when the prospective studies were analyzed separately, the 5-year cumulative risk increased to 23.4% in BRCA1 carriers and to 17.5% in BRCA2 carriers.

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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Genetics of Breast and Gynecologic Cancers (PDQ®)—Health Professional Version - National Cancer Institute