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J Med Genet. 2018 Aug;55(8):538-545. doi: 10.1136/jmedgenet-2017-105195. Epub 2018 Apr 5.

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population.

Author information

Barts Cancer Institute, Queen Mary University of London, London, UK.
Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK.
Gynaecological Cancer Research Centre, Department of Women's Cancer, Institute for Women's Health, University College London, London, UK.
Department of Mathematics and Department of Women's Cancer, University College London, London, UK.
Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.
Department of Infectious Disease Epidemiology, London School of Hygiene & Tropical Medicine, London, UK.
Department of Clinical Genetics, Guy's Hospital, London, UK.
Graduate School of Health, University of Technology, Sydney, New South Wales, Australia.
South West Thames Molecular Genetics Diagnostic Laboratory, St George's University of London, London, UK.
Department of Health Services Research and Policy, London School of Hygiene & Tropical Medicine, London, UK.
Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
University of New South Wales, Sydney, New South Wales, Australia.



BRCA carrier identification offers opportunities for early diagnoses, targeted treatment and cancer prevention. We evaluate BRCA- carrier detection rates in general and Ashkenazi Jewish (AJ) populations across Greater London and estimate time-to-detection of all identifiable BRCA carriers.


BRCA carrier data from 1993 to 2014 were obtained from National Health Service genetic laboratories and compared with modelled predictions of BRCA prevalence from published literature and geographical data from UK Office for National Statistics. Proportion of BRCA carriers identified was estimated. Prediction models were developed to fit BRCA detection rate data. BRCA carrier identification rates were evaluated for an 'Angelina Jolie effect'. Maps for four Greater London regions were constructed, and their relative BRCA detection rates were compared. Models developed were used to predict future time-to-identify all detectable BRCA carriers in AJ and general populations.


Until 2014, only 2.6% (3072/111 742 estimated) general population and 10.9% (548/4985 estimated) AJ population BRCA carriers have been identified in 16 696 608 (AJ=190 997) Greater London population. 57% general population and 54% AJ mutations were identified through cascade testing. Current detection rates mirror linear fit rather than parabolic model and will not identify all BRCA carriers. Addition of unselected ovarian/triple-negative breast cancer testing would take >250 years to identify all BRCA carriers. Doubling current detection rates can identify all 'detectable' BRCA carriers in the general population by year 2181, while parabolic and triple linear rates can identify 'detectable' BRCA carriers by 2084 and 2093, respectively. The linear fit model can identify 'detectable' AJ carriers by 2044. We did not find an Angelina Jolie effect on BRCA carrier detection rates. There was a significant difference in BRCA detection rates between geographical regions over time (P<0.001).


The majority of BRCA carriers have not been identified, missing key opportunities for prevention/earlier diagnosis. Enhanced and new strategies/approaches are needed.


Brca; detection rate; genetic testing; prediction; time to detection

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Conflict of interest statement

Competing interests: IJ and UM have a financial interest in Abcodia, Ltd, a company formed to develop academic and commercial development of biomarkers for screening and risk prediction. IJ is a member of the board of Abcodia Ltd, a Director of Women’s Health Specialists Ltd and received consultancy from Beckton Dickinson. RM declares research funding from The Eve Appeal and Cancer Research UK into population testing and from Barts & the London Charity outside this work, as well as an honorarium for grant review from Israel National Institute for Health Policy Research. The other authors declare no conflict of interest.

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