EMBARGOED UNTIL 00:00 DECEMBER 1, 2014 - New research shows current approach for detecting BRCA gene mutations misses people at high risk of cancer

Two research papers published today on the BRCA gene mutation in the the Jewish population show that the current process of identifying people which relies on assessing someone’s family history, misses half the people who have the mutation and are at risk of developing cancer.

Women carrying a BRCA 1 or 2 gene mutation have approximately a 15%-45% chance of getting ovarian cancer and a 45-65% chance of getting breast cancer. Women who know they are carriers can better manage their risk of developing cancer by enhanced screening or risk-reducing surgery.

Researchers running the Genetic Cancer Prediction through Population Screening (GCaPPS) study were funded by The Eve Appeal – the UK’s only dedicated gynaecological  cancer  research charity. The GCaPPS researchers assessed the difference between family history-based testing and population screening in the Ashkenazi Jewish community, which is known to have a significantly higher number of people carrying the BRCA gene mutations than the non-Jewish population. The researchers also carried out a cost-effectiveness analysis, and a study of the impact of testing on psychological health and quality of life.  The results from both papers are published in the Journal of the National Cancer Institute.

In the study, 56% of people carrying a BRCA mutation were not identified by the existing family history criteria but were identified by population testing. Other key findings include:

  • No significant difference in the short-term psychological impact or quality of life between those tested through population screening than those through family history testing.
  • Screening all Ashkenazi Jewish women aged 30 and over, compared with family history testing, would cut the number of ovarian and breast cancers that occur and could potentially save the NHS £3.7million.

Athena Lamnisos, CEO, The Eve Appeal, says:

“Women at increased risk of cancer deserve far more than today’s genetic screening process gives them. This study shows that broadening genetic testing beyond just family history saves more lives and more money.”

Professor Ian Jacobs, Chief Investigator, GCaPPS and Vice-President and Dean of the Faculty of Medical and Human Sciences, University of Manchester, says:

“Our findings in GCaPPS have important implications. For the Ashkenazi Jewish community specifically, they suggest that population testing for BRCA1/2 mutations could save lives, is felt to be acceptable, and would be cost effective. More broadly, they raise the possibility of new approaches to testing populations for cancer predisposing inherited genetic changes. As knowledge of the genetic basis of cancer increases, the acceptability to society of this type of testing rises and the cost of testing falls, we are likely to see rapid change in the way we deliver cancer genetic testing in health care.”

Ranjit Manchanda, Trial Co-ordinator, Lead Researcher GCaPPS and Consultant Gynaecological Oncologist, St Bartholomew’s Hospital, London, says:

“This approach does not cause short-term psychological harm or impact quality of life on a population basis compared to the traditional approach of family history based testing. This is reassuring and indicates the change we may see in future screening.”

Carolyn Graham, 42, took part in the GCaPPS study in 2011. She lost her mother to breast cancer but was unable to obtain genetic testing on the NHS. The study confirmed that she was carrying the BRCA2 gene mutation and she opted for surgical risk management. Carolyn underwent an oopherectomy (removal of both ovaries) followed by a double mastectomy and reconstruction in January 2012. She has recovered well from surgery and insists that without GCaPPS she would have felt like a walking time bomb.

Caroline Presho, 41, underwent a preventative double mastectomy when she was 36 years old after testing positive for a BRCA gene mutation three years earlier. Caroline’s family is of Ashkenazi Jewish descent but despite losing both her aunt and father to cancer she didn’t meet the family history criteria to have genetic testing.  She says:

“The current NICE guidelines meant initially I wasn’t eligible for BRCA screening, even with my Ashkenazi Jewish ancestry. Subsequent access to BRCA testing empowered me to make informed decisions about my personal health. This type of proactive healthcare not only saves lives, but will also save the NHS considerable amounts of money.”

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For further information or to request interviews with spokespeople, researchers and case studies:

General media enquiries:                            Email: press@eveappeal.org.uk               

Athena Lamnisos, CEO, The Eve Appeal

Tel: 020 7605 0100 /   07518 174 532           Email: athena.lamnisos@eveappeal.org.uk

Liz Engel, Press Office, The Eve Appeal

Tel@ 020 7605 0100 / 07812 150832          Email: liz.engel@eveappeal.org.uk


  • The two published papers can be accessed through the Journal of the National Cancer Institute and will be online from 13:00 US Eastern time Sunday 30th November 2014
  • For a summary paper of the findings, prepared by The Eve Appeal, please contact: press@eveappeal.org.uk
  • For more information about case studies, please contact press@eveappeal.org.uk


  • The Eve Appeal is the only UK national charity raising awareness and funding research in the five gynaecological cancers – ovarian, womb, cervical, vaginal and vulval. It was set up to save women’s lives by funding groundbreaking research focused on developing effective methods of risk prediction, earlier detection and developing screening for these women-only cancers.  The charity has grown and developed in parallel with its core research team, the Department of Women’s Cancer at University College London (UCL), and has played a crucial role in providing seed funding, core infrastructure funding and project funding in addition to campaigning to raise awareness of women-specific cancers.  The world-leading research that we fund is ambitious and challenging but our vision is simple:  A future where fewer women develop and more women survive gynaecological cancers.