Genetic testing for BRCA mutations

Genetic mutations in the BRCA1 and BRCA2 genes can significantly increase the risk of some cancers, but many people across Europe lack access to appropriate and effective genetic testing.

Genetic testing for BRCA mutations

Genetic mutations in the BRCA1 and BRCA2 genes can significantly increase the risk of some cancers, but many people across Europe lack access to appropriate and effective genetic testing.

Context

Breast cancer is the most common cancer among women in Europe – and genetic mutations in the BRCA1 and BRCA2 genes significantly increase the risk of developing breast cancer.

Around 12.5% of women will develop breast cancer in their lifetime. But for women with genetic predisposition, the risk is far higher: 60–90% of women with a BRCA1 mutation and 45–85% of women with a BRCA2 mutation will develop breast cancer. Breast cancers related to BRCA1 mutations are more likely to be triple-negative, which is more difficult to treat than other types of breast cancer.

Knowing one’s BRCA status can be beneficial in various ways. For women with breast cancer, it may help to inform treatment decisions. BRCA-mutation carriers without cancer, meanwhile, can reduce their risk through regular monitoring and may opt to have preventive surgery or chemoprevention. Men can also benefit from knowing their BRCA status, as BRCA mutations can increase the risk of prostate and other cancers. Finally, identifying BRCA mutations can also benefit the carrier’s family members, who may wish to have genetic testing themselves.

But many people at high risk of developing BRCA-related cancers are unable to access genetic testing services, and are therefore not supported to decide how to act to reduce their risk of developing cancer.

Where genetic testing is available, it is not always provided in an appropriate or effective way. People undergoing genetic testing should have access to genetic counsellors to help them understand the implications of the test and results. Genetic tests should be of high quality and delivered as part of a comprehensive, multidisciplinary approach – but this is not always the case.

Across Europe, BRCA-mutation carriers face gaps in accessing ongoing care and support.

Download project output

Country profiles

If you would like to publicly use or disseminate any of the country profiles, please see the contact list at the bottom of this page.

%

Around 3–6% of all breast cancer cases are due to inherited mutations in the BRCA1 and BRCA2 genes

%

45–90% of women with a BRCA mutation will go on to develop breast cancer in their lifetime

%

Eligibility criteria based on family history fail to detect 50% of BRCA mutation carriers

What we achieved

HPP assembled a group of expert contributors to develop a report outlining key areas where action from European and national policymakers is needed to improve access to genetic testing and associated services for people at high risk of BRCA-related breast cancer.

The report summarises four priority areas where policy change is needed to ensure BRCA-mutation carriers are provided with the care and support that they need along their entire genetic testing journey. This includes the time period prior to testing, during the testing process and, if they are found to carry a mutation, during ongoing monitoring and follow-up:

  • Comprehensive, evidence-based policies for BRCA testing and the management of BRCA-related breast cancer
  • Greater understanding among the public, BRCA-mutation carriers and patients
  • Comprehensive care pathways
  • Improved awareness and knowledge among healthcare professionals, including primary care physicians.

The report is accompanied by profiles of seven countries: France, Germany, Ireland, Israel, Italy, Sweden and the United Kingdom. These country profiles provide more detailed information about challenges and opportunities around BRCA genetic testing and ongoing care in each country.

Key partners and stakeholders

The following expert contributors were consulted and provided feedback during the development of the report and country profiles:

European-level report

  • Karen Benn, Deputy CEO/ Head of Public Affairs, Europa Donna
  • Antonella Cardone, Director, European Cancer Patient Coalition
  • Lydia Makaroff, former Director, European Cancer Patient Coalition; current Chief Executive Officer, Fight Bladder Cancer
  • Elżbieta Senkus-Konefka, Associate Professor at the Department of Oncology and Radiotherapy, Medical University of Gdańsk, Poland

France country profile

  • Pascal Pujol, President, BRCA-France; Professor of Medical Genetics, Centre Hospitalier Universitaire de Montpellier
  • Dominique Stoppa-Lyonnet, Director of the Genetics Department, Institut Curie; Professor of Genetics, University Paris-Descartes

Germany country profile

  • Rita Schmutzler, Director, Centre for Breast and Ovarian Cancer, Cologne
  • Evelin Schröck, Director, Institute for Clinical Genetics at the TU Dresden

Ireland country profile

  • Liz Yeates, CEO, Marie Keating Foundation

Israel country profile

  • Lisa Cohen, Founder and Director, BRACHA
  • Rinat Berstein-Molho, MD, Specialist in medical oncology and medical genetics, Breast Cancer Unit, Oncology Institute, Sheba Medical Center

Italy country profile

  • Anna Maria Mancuso, President, Salute Donna Onlus
  • Bernardo Bonanni, Director of the Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO)

Sweden country profile

  • Rebecka Pestoff, MSc, Certified Genetic Counsellor (EBMG), Linköping University Hospital; Board member, European Society of Human Genetics; Board member, Swedish Professional Association of Genetic Counsellors

United Kingdom country profile

  • Gareth Evans, Professor in Medical Genetics and Cancer Epidemiology, University of Manchester
  • Nick Meade, Director of Policy, Genetic Alliance UK

The European-level report and country profiles were initiated and funded by Pfizer. If you would like to publicly use or disseminate any of the country profiles, please contact the appropriate Pfizer lead from the list below to ensure compliance with local laws and regulations:

For overall queries on the work, please contact Al Ribeiro (albert.ribeiro@pfizer.com)