Purpose BRCA mutation carriers have an increased risk of developing breast or ovarian cancer. Oral contraception (OC) is known to increase breast cancer and reduce ovarian cancer risk in the general population. This review analyses the published data on OC and risk of cancer in BRCA mutation carriers. Methods We included all relevant articles published in English from 1995 to 2018. Literature was identified through a search on PubMed and Cochrane Library. Results We included four meta-analyses, one review, one case–control study and one retrospective cohort study on the association between ovarian cancer and OC in BRCA mutation carriers. All report a risk reduction for the OC users and several also describe an inverse correlation with duration of use. Regarding breast cancer, we included four meta-analyses, one review, one case–control study, two case-only studies, one prospective and one retrospective cohort study. Some studies report a risk elevation, while others did not find an association between OC use and breast cancer in BRCA mutation carriers. In other studies, the association was limited to early-onset breast cancer and/or associated with young age at first start of OC. Conclusion Oral contraception leads to a risk reduction of ovarian cancer also in BRCA mutation carriers. An increase in breast cancer risk due to OC cannot be excluded. Women with BRCA mutation who consider OC use have to be informed about possible increase in breast cancer risk and alternative contraceptive methods. OC should not be used for the prevention of ovarian cancer in this population.

Background— The presence of coronary artery ectasia (CAE) is influenced by genetic factors and related to the presence of aneurysms in other vascular beds. Bicuspid aortic valve (BAV) disease is frequently accompanied by ascending aortic aneurysm. Because the aortic valve and the proximal parts of the coronary arteries share a common embryonic origin, we hypothesized that CAE is associated with BAV disease. Methods and Results— One hundred seventy-seven patients with suspected aortic valve disease (n=94 BAV, n=83 tricuspid aortic valve) underwent both cardiac magnetic resonance imaging and coronary angiography. To confirm the association of CAE with BAV, the frequency of CAE was evaluated in an in-house BAV registry (n=600, n=231 with available coronary angiogram) and compared with the frequency of CAE in the German Myocardial Infarction (MI) Family Study, in which the heritability of CAE was formerly established (n=899). Furthermore, the frequency of CAE was investigated in an observational registry of real-life patients undergoing coronary angiography for clinically indicated reasons (n=3.097) and in a subgroup of the KORA MI study (Cooperative Health Research in the Region of Augsburg), which is a population-based MI registry (n=403). Compared with tricuspid aortic valve disease, CAE occurred more than twice as frequently in cardiac magnetic resonance–confirmed BAV disease (17% versus 44%; P <0.0001) and CAE was observed similarly often in subjects with BAV with (37%) and without (54%, P =0.11) ascending aortic pathology. The common appearance of CAE in patients with BAV could be independently confirmed in the BAV registry (frequency 37%), whereas CAE was found less frequently in family history of positive MI patients (21%), sporadic MI without familial disposition (10%), and rarely in unrelated real-life catheterization patients (6%). Conclusions— To our knowledge, our data show for the first time that ectatic coronary artery disease is a common appearance of BAV disease with and without ascending aortic ectasia.

Purpose BRCA mutation carriers have an increased risk of developing breast or ovarian cancer. Risk-reducing bilateral salpingo-oophorectomy (RRBSO) is associated with a decrease in risk for tubal and ovarian cancer. Hormone replacement therapy (HRT) may increase breast, ovarian, and endometrial cancer risk in the general population. This review analyses the published data on HRT and risk of cancer in BRCA mutation carriers with and without RRBSO. Methods We included all relevant articles published in English from 1995 to October 2020. Sources were identified through a search on PubMed and Cochrane Library. Results We included one case–control and one retrospective cohort study on ovarian and one case–control study on endometrial cancer risk and HRT in BRCA mutation carriers. Regarding breast cancer risk, one case–control study on BRCA mutation carriers with and without RRBSO and one case–control study, one Markov chain decision model, two prospective cohort studies, and one metaanalysis on carriers after RRBSO were included. For ovarian cancer, results were ambiguous. For breast cancer, most studies did not find an adverse effect associated with HRT. However, some of the studies found a risk modification associated with different formulations and duration of use. Conclusion Although data are limited, HRT does not seem to have a relevant effect on cancer risk in BRCA mutation carriers. RRBSO should not be postponed to avoid subsequent HRT in this population. Adequate HRT after RRBSO should be offered to avoid chronic diseases resulting from low estrogen levels. However, further data on the safety of different formulations are needed.