Familial breast cancer: is it time to move from a reactive to a proactive role? H. Harris • I. Nippert • C. Julian-Reynier • J. Schmidtke • C. van Asperen • D. Gadzicki • A. Tibben • D. G. Evans Published online: 13 March 2011 Ó Springer Science+Business Media B.V. 2011 Abstract In 2004 the NICE guidelines on familial breast cancer advised Health Care Professionals that they should not actively seek to identify women with a family history of breast cancer. We have carried out a review of the evidence base and a large scale questionnaire survey of health professionals in four European countries. There is overwhelming support amongst GPs and surgeons against the premise that that health care professionals should not be proactive in identifying patients at risk of familial breast cancer. This that suggest the time is right to overturn the NICE decision. Keywords BRCA1 Á BRCA2 Á Breast cancer Á Screening Á Mortality Á Proactive Introduction Until recently there was little evidence base that inter- ventions would affect life expectancy in familial breast cancer other than from theoretically based decision anal- ysis in BRCA1 or BRCA2 mutation carriers [1, 2]. In 2004 the UK guidelines for familial breast cancer on women unaffected with the disease determined that ‘Health Care Professionals should not actively seek to identify women with a family history of breast cancer’ [3]. This was based largely on the expert panel view that in the absence of definitive evidence of interventions that would improve life expectancy women should not be actively sought out in order to refer them for unproven surveillance. Since 2004 a wealth of evidence on the efficacy of MRI screening and risk reducing surgery has emerged including the first real impact on survival [5–8]. More recently the first good D. G. Evans (&) Genetic Medicine MAHSC, Central Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UK e-mail: gareth.evans@cmft.nhs.uk D. G. Evans Genesis Prevention Centre, University Hospital South Manchester, Wythenshawe Hospital, Manchester, UK H. Harris GenEd Coordinating Centre, University of Manchester, Manchester, UK C. Julian-Reynier U912, INSERM, IRD, Aix-Marseille Universite ´, Institut Paoli- Calmettes, Marseille, France I. Nippert Women’s Health Research, Westfaelische Wilhelms- Universitaet, Mu ¨nster Medical School, Mu ¨nster, Germany J. Schmidtke Institute of Human Genetics, Hannover Medical School, Hannover, Germany A. Tibben Centre of Human and Clinical Genetics, Leiden University Medical Centre (LUMC), Leiden, The Netherlands A. Tibben Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands C. van Asperen Department of Clinical Genetics, Centre for Human and Clinical Genetics, Leiden University Medical Centre (LUMC), Leiden, The Netherlands D. Gadzicki Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany 123 Familial Cancer (2011) 10:501–503 DOI 10.1007/s10689-011-9434-1