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New test predicts the risk of non-hereditary breast cancer

New test predicts the risk of non-hereditary breast cancer
27 Jun 2014

A simple blood test is currently in development that could help predict the likelihood of a woman developing breast cancer, even in the absence of a high-risk BRCA1 gene mutation, according to research published in the open access journal Genome Medicine.

Researchers from UCL identified an epigenetic signature in the blood of women predisposed for breast cancer owing to an inherited genetic mutation of the BRCA1 gene. Epigenetic alterations are thought to be key molecular switches that are involved in the development of cancer. Strikingly, the same signature was discovered in the blood of women without a BRCA1 mutation but who went on to develop breast cancer, making it a potential early marker of women’s cancer in the general population.

BRCA1 mutation is inherited from a parent, and is the cause of at least ten percent of breast cancers. The cause of the remaining 90% of sporadic breast cancers in non-mutation carriers remains to be explained. Scientists are beginning to understand that genetic mutations are not the sole contributors to disease development and that the way in which genes are arranged in our cells can affect whether they function appropriately – that is, whether they are turned on or off. The arrangement and expression of our genes is overseen by the process of epigenetics. One of the most studied epigenetic mechanisms is a process called DNA methylation, which was the focus of the current study.

In this study, researchers used blood samples collected several years before breast cancer development from two large UK cohorts of women – the MRC National Survey of Health and Development and the UK Collaborative Trial of Ovarian Cancer Screening. They looked at the DNA methylation signature from blood of those women with and without BRCA1 mutations. When this signature was applied to samples from both these groups, those women who developed non-hereditary cancers were found to have the same DNA methylation signature.

Professor Martin Widschwendter, the study’s lead author and Head of University College London’s Department of Women’s Cancer says: “We identified an epigenetic signature in women with a mutated BRCA1 gene that was linked to increased cancer risk and lower survival rates. Surprisingly, we found the same signature in large cohorts of women without the BRCA1 mutation and it was able to predict breast cancer risk several years before diagnosis.”

The researchers believe the epigenetic signature they found is consistent with the idea that changes in the epigenome of immune cells are key to cancer progression. The signature may be responsible for silencing genes in immune cells, which in turn could affect the ability of the immune system to prevent breast cancer development. Further research needs to be done to find out whether this epigenetic signature is just an indicator of breast cancer risk or is involved with the progression of breast cancer. Work is now proceeding on using these findings in the clinical setting.

Professor Widschwendter says: “The data is encouraging since it shows the potential of a blood based epigenetic test to identify breast cancer risk in women without known predisposing genetic mutations”.

The work was jointly funded by The Eve Appeal and the National Institute for Health Research (NIHR) University College London Hospitals Biomedical Research Centre.

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Notes to editor:
1. Research Research
A BRCA1-mutation associated DNA methylation signature in blood cells predicts sporadic breast cancer incidence and survival
Shahzia Anjum, Evangelia-Ourania Fourkala, Michal Zikan, Andrew Wong, Aleksandra Gentry-Maharaj, Allison Jones, Rebecca Hardy, David Cibula, Diana Kuh, Ian J Jacobs, Andrew E Teschendorff, Usha Menon and Martin Widschwendter
Genome Medicine 2014, 6:47

Article available at journal website.

Please name the journal in any story you write. If you are writing for the web, please link to the article. All articles are available free of charge, according to BioMed Central's open access policy.

2. Genome Medicine publishes peer-reviewed research articles, new methods, software tools, reviews and comment articles in all areas of medicine studied from a post-genomic perspective. Areas covered include, but are not limited to, disease genomics (including genome-wide association studies and sequencing-based studies), disease epigenomics, pathogen and microbiome genomics, immunogenomics, translational genomics, pharmacogenomics and personalized medicine, proteomics and metabolomics in medicine, systems medicine, and ethical, legal and social issues.

3. A key component in the successful development of Prof Widschwendter’s Department of Women’s Cancer at UCL has been their relationship with The Eve Appeal who part-funded this study. The charity has grown and developed in parallel with the department 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. Much work remains to be done and the kind of support provided by The Eve Appeal is vital. For further information: Liz Engel, Press Office – 020 7605 0100 or 07812 150832. Email liz.engel@eveappeal.org.uk; www.eveappeal.org.uk.

4. The National Institute for Health Research (NIHR) University College London Hospitals Biomedical Research Centre is a partnership between University College London Hospitals NHS Foundation Trust and UCL, and is funded by the NIHR. The centre, set up in 2007, is at the forefront of research into major causes of illness and disease-related death and has already invested over £100m in research projects and infrastructure. Awarded a further £100m in government funding from the NIHR in 2011, the centre helps take innovations in basic science and turn them into therapies that directly benefit patients. In particular the centre supports experimental medicine research which tends to be ‘first in man’ studies such as research into new therapies and devices or the mechanisms of disease.

5. BioMed Central is an STM (Science, Technology and Medicine) publisher which has pioneered the open access publishing model. All peer-reviewed research articles published by BioMed Central are made immediately and freely accessible online, and are licensed to allow redistribution and reuse. BioMed Central is part of Springer Science+Business Media, a leading global publisher in the STM sector.

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