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 genetic testing.

Testing for BRCA mutations

Context

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

Around 12.5% of women will have 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 be diagnosed with breast cancer. Breast cancers related to BRCA1 mutations are more likely to be triple-negative, which means they are more difficult to treat than other types of breast cancer.

Knowing one’s BRCA status can be beneficial in various ways. Women who have the BRCA mutation can reduce their risk of cancer through regular monitoring and may opt to have preventive surgery or chemoprevention. For women with breast cancer, it may help to inform treatment decisions. Men can also benefit from knowing their BRCA status, as BRCA mutations can increase the risk of prostate and other cancers. Identifying BRCA mutations can also benefit the carrier’s family members, who may wish to have genetic testing themselves.

Many people at high risk of developing BRCA-related cancers are unable to access genetic testing. They are therefore not supported to decide how to act in order 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, who can 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, people with BRCA mutations face gaps in accessing ongoing care and support.

What we’ve 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 for policy change to ensure people with a BRCA mutation are provided with the care and support that they need along their entire genetic testing journey. This includes the time leading up to the test, 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, people with a BRCA mutation and cancer patients
  • comprehensive care pathways
  • improved awareness and knowledge among healthcare professionals, including primary care physicians.

The report, Genetic testing for BRCA mutations: a policy paper, is accompanied by seven country profiles: France, Germany, Ireland, Israel, Italy, Sweden and the United Kingdom. The 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; CEO, Fight Bladder Cancer
  • Elżbieta Senkus-Konefka, Associate Professor at the Department of Oncology and Radiotherapy, Medical University of Gdańsk, Poland

Country profiles:

France

  • 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

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

Ireland

  • Liz Yeates, CEO, Marie Keating Foundation

Israel

  • 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

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

Sweden

  • 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

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

Project funding

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)

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