Cookie Settings

We use cookies to optimize our website. These include cookies that are necessary for the operation of the site, as well as those that are only used for anonymous statistic. You can decide for yourself which categories you want to allow. Further information can be found in our data privacy protection .


These cookies are necessary to run the core functionalities of this website and cannot be disabled.

Name Webedition CMS
Purpose This cookie is required by the CMS (Content Management System) Webedition for the system to function correctly. Typically, this cookie is deleted when the browser is closed.
Name econda
Purpose Session cookie emos_jcsid for the web analysis software econda. This runs in the “anonymized measurement” mode. There is no personal reference. As soon as the user leaves the site, tracking is ended and all data in the browser are automatically deleted.

These cookies help us understand how visitors interact with our website by collecting and analyzing information anonymously. Depending on the tool, one or more cookies are set by the provider.

Name econda
Purpose Statistics
External media

Content from external media platforms is blocked by default. If cookies from external media are accepted, access to this content no longer requires manual consent.

Name YouTube
Purpose Show YouTube content
Name Twitter
Purpose activate Twitter Feeds

14 new breast cancer risk genes discovered

No. 37c | 19/06/2018 | by Koh

Many genetic markers associated with the familial breast cancer risk are outside the protein-coding regions of the genome and are likely to regulate the activity of neighboring genes. In a large international network, in which numerous DKFZ researchers were also involved, scientists have now combined genome-wide association studies with an estimation of the gene activity. They identified 48 genes whose activity is associated with breast cancer risk. Among them are 14 genes that have not yet been associated with breast cancer. The functional analysis of these genes can provide further information on the tumor biology of breast cancer and thus possibly identify target structures for new therapies.

© Fotolia

The family risk of women whose immediate family members suffer from breast cancer is about twice as high as that of the general population. A large number of genetic markers associated with the increased risk are already known. These markers are usually identified by so-called genome-wide association studies. Researchers are testing millions of tiny genome variants that differ from each other only in a single DNA component (SNPs "single nucleotide polymorphisms") for association with the breast cancer risk.

"We are particularly interested in SNPs associated with gene expression in breast tissue. We assume that they will help us to identify genes that contribute to breast cancer development through altered activity," said Jenny Chang Claude from the German Cancer Research Center (DKFZ). The scientist is one of the authors of a recently published study, along with numerous other colleagues from the DKFZ. The aim of the international project was to identify unknown genes that might be involved in the development of breast cancer. To this end, the researchers first identified SNPs that are associated with altered expression of individual genes. These SNPs were then examined for an association with the breast cancer risk. Under the leadership of Wei Zheng of the Vanderbilt University Medical Center, more than 160 research groups worldwide participated in the study.

Genetic analyses of 229,000 women were included in the study, more than half of whom had breast cancer. Studies of such dimensions are necessary in order to be able to make statistically reliable statements on the individual SNPs.

In the end, the scientists identified 48 genes whose altered expression is significantly associated with an increased breast cancer risk. 14 of them were not yet known to be associated with breast cancer. The scientists specifically switched off 13 of the 48 genes that had a particularly strong risk association in various breast cancer cell lines. In eleven cases, this has led to changes in cell growth and the ability to form colonies - both are considered important mechanisms in the development of cancer.

The scientists now want to characterize all genes identified in the study more precisely. They hope that this will lead to a more precise understanding of the tumor biology of breast cancer. It may also be possible to detect previously unknown cancer-relevant signaling pathways that could be blocked with targeted active substances.

Lang Wu et al: Identification of novel susceptibility loci and genes for breast cancer risk: A transcriptome-wide association study of 229,000 women of European descent. Nature Genetics, 2018; DOI: 10.1038/s41588-018-0132-x

With more than 3,000 employees, the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) is Germany’s largest biomedical research institute. DKFZ scientists identify cancer risk factors, investigate how cancer progresses and develop new cancer prevention strategies. They are also developing new methods to diagnose tumors more precisely and treat cancer patients more successfully. The DKFZ's Cancer Information Service (KID) provides patients, interested citizens and experts with individual answers to questions relating to cancer.

To transfer promising approaches from cancer research to the clinic and thus improve the prognosis of cancer patients, the DKFZ cooperates with excellent research institutions and university hospitals throughout Germany:

  • National Center for Tumor Diseases (NCT, 6 sites)
  • German Cancer Consortium (DKTK, 8 sites)
  • Hopp Children's Cancer Center (KiTZ) Heidelberg
  • Helmholtz Institute for Translational Oncology (HI-TRON Mainz) - A Helmholtz Institute of the DKFZ
  • DKFZ-Hector Cancer Institute at the University Medical Center Mannheim
  • National Cancer Prevention Center (jointly with German Cancer Aid)
The DKFZ is 90 percent financed by the Federal Ministry of Education and Research and 10 percent by the state of Baden-Württemberg. The DKFZ is a member of the Helmholtz Association of German Research Centers.


Subscribe to our RSS-Feed.

to top
powered by webEdition CMS