New method to predict increased risk of non-familial breast cancer

October 01, 2015

By detecting cancer at an early stage, or even predicting who has an increased risk of being affected, the possibilities to treat the disease can be radically improved. In an international study led from Uppsala University the researchers have discovered that apparently healthy breast cells contain genetic aberrations that can be associated with an increased risk for non-familial breast cancer. The results have been published in the journal Genome Research.

In the Western world, approximately one out of ten women will develop breast cancer at some point in life. In most cases the disease is sporadic, i.e. it is not hereditary and is caused by mutations that have accumulated during the woman's lifetime.

Early detection is essential to successful treatment of tumours. Sporadic breast cancer is usually detected by the woman herself as a lump in the breast, or at a mammography examination. In contrast to familial breast cancer, where a few genes can be analysed and related to disease development, there is presently no reliable method to predict which women are at higher risk for developing sporadic breast cancer later in life.

New findings from an international research group, led by Professor Jan Dumanski at Uppsala University, show that genetic alterations in apparently healthy breast cells can be associated with an increased risk for sporadic breast cancer.

'We examined tissue samples that were located far away from the tumour and had been taken at the same time as a breast tumour had been removed. The tissues did not contain any tumour cells and looked like completely normal breast tissue. But when we analysed the DNA in these tissues we found that they contained genetic aberrations in well-known cancer genes, even though they appeared normal in the microscope', says Jan Dumanski, Department of Immunology, Genetics and Pathology.

The study shows that the development of sporadic breast cancer is a progressive process over many years, eventually producing a tumour. The genetic aberrations in the healthy cells make up a genetic "signature" that indicates an increases risk for developing non-familial breast cancer. This knowledge can be used for future improvements in diagnostics.

'The mutated genes create an altered protein pattern on the cells' surface, which could be used to detect those particular cells. This opens up possibilities to develop diagnostic methods that could identify women who are at risk for developing breast cancer, before the tumour is formed and much earlier than it can be detected by e.g. mammography', says Jan Dumanski.
The study has been published in the journal Genome Research and is the result of collaboration between research groups in Uppsala and Falun in Sweden, Krakow, Bydgoszcz and Gdansk in Poland, and Huntsville, USA.

For more information, please contact:

Jan Dumanski, +46 18 471 5035,

Forsberg et al. (2015) Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer, Genome research

Parts of the research in this study has been carried out in the framework of Science for Life Laboratory (SciLifeLab). SciLifeLab is a Swedish national centre for molecular biosciences with the focus on health and environmental research. The centre combines advanced technical know-how and state-of-the art equipment with a broad knowledge of translational medicine and molecular bioscience.

Uppsala University

Related Genes Articles from Brightsurf:

Are male genes from Mars, female genes from Venus?
In a new paper in the PERSPECTIVES section of the journal Science, Melissa Wilson reviews current research into patterns of sex differences in gene expression across the genome, and highlights sampling biases in the human populations included in such studies.

New alcohol genes uncovered
Do you have what is known as problematic alcohol use?

How status sticks to genes
Life at the bottom of the social ladder may have long-term health effects that even upward mobility can't undo, according to new research in monkeys.

Symphony of genes
One of the most exciting discoveries in genome research was that the last common ancestor of all multicellular animals already possessed an extremely complex genome.

New genes out of nothing
One key question in evolutionary biology is how novel genes arise and develop.

Good genes
A team of scientists from NAU, Arizona State University, the University of Groningen in the Netherlands, the Center for Coastal Studies in Massachusetts and nine other institutions worldwide to study potential cancer suppression mechanisms in cetaceans, the mammalian group that includes whales, dolphins and porpoises.

How lifestyle affects our genes
In the past decade, knowledge of how lifestyle affects our genes, a research field called epigenetics, has grown exponentially.

Genes that regulate how much we dream
Sleep is known to allow animals to re-energize themselves and consolidate memories.

The genes are not to blame
Individualized dietary recommendations based on genetic information are currently a popular trend.

Timing is everything, to our genes
Salk scientists discover critical gene activity follows a biological clock, affecting diseases of the brain and body.

Read More: Genes News and Genes Current Events is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to