Differences in Uptake of Risk Reduction Strategies Among Underserved Populations

The identification of germline BRCA1 and BRCA2 (BRCA1/2) underserved women is of paramount importance in an era where population-wide screening for germline BRCA1/2 mutations is being acmutations creates a unique opportunity to reduce the incidence of breast and ovarian cancer by providing appropriate screening and risk reducing prophylactic surgery options. Such downstream reductions in cancer incidence will only be successful if identification of a deleterious mutation is followed by prophylactic mastectomy and bilateral salpingo-oophorectomy. The NCCN guidelines (v.2.2015) (National Comprehensive Cancer Network inc., 2015) recommend that women with deleterious BRCA1/2 mutations undergo breast screening with annual breast MRI starting at the age 25, risk reducing salpingooophorectomy (RRSO), typically between 35 and 40 years and upon completion of child bearing, and discussion of risk-reducing mastectomy (RRM). Evaluation of the efficacy of the prophylactic surgical strategies has confirmed a reduction in breast cancer with RRM of approximately 90%, a reduction in ovarian cancer risk with RRSO of 85–90% and a reduction in breast cancer risk of 50%with premenopausal RRSO. Additionally RRSO has been shown to reduce cancer specific and all cause mortality in BRCA1/2 mutation carriers (Marchetti et al., 2014). Thus, these prophylactic measures appear to reduce cancer associated morbidity and mortality in BRCA1/2 mutation carriers, although it is unclear whether the benefit of RRSO is the same in BRCA1 and in BRCA2 mutation carriers (Domcheck et al., 2010). In this issue of EBioMedicine, Robinson et al. (Robinson et al., 2015) are to be commended for addressing interesting and important questions in clinical genetics that include population-level screening in underserved populations and the rate of adherence to risk reducing surgery recommendations. Using a predictive model of cancer reduction in patients with hereditary breast and ovarian cancer (HBOC) the authors estimated an 8.8% reduction in breast and ovarian cancer in the underserved group of mutation carriers compared to a 57% reduction in breast cancer and