Cancer surveillance based on imaging techniques in carriers of BRCA1/2 gene mutations: a systematic review

We have systematically reviewed the literature focusing on the performance of surveillance programmes and imaging techniques for the early diagnosis of breast and ovarian cancer in women carrying mutations in BRCA1/2 genes. A search for relevant articles published between 1996 and 2005 (inclusive) was run on Medline, Embase and other databases. Of the 749 articles retrieved, only 13 met the inclusion criteria. Of these, 12 provided information on breast cancer surveillance, 1 on ovarian cancer surveillance and a further study addressed both cancer types. A critical appraisal of the studies was performed using a tool for the quality assessment of diagnostic accuracy studies (QUADAS). The synthesis of results is qualitative. All studies on imaging techniques for the diagnosis of breast cancer indicated that screening MRI had the highest sensitivity (between 77% and 100%). Breast cancer surveillance programmes, including MRI, achieved the highest diagnostic performance (between 83% and 95%) for all women. However, it must be taken into account that biases that may affect the validity of the outcomes were seen in the evaluated studies. Also, MRI is an expensive test with a low positive predictive value and, to date, MRI screening has not been proven to reduce mortality rates in women carrying BRCA1/2 gene mutations. As a result of the scant information and low quality of the papers reviewed, no definitive conclusion could be drawn on the performance of ovarian cancer surveillance in women carrying BRCA1/2 mutations.