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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.

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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

The German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) with its more than 3,000 employees is the largest biomedical research institution in Germany. More than 1,300 scientists at the DKFZ investigate how cancer develops, identify cancer risk factors and search for new strategies to prevent people from developing cancer. They are 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 all questions on cancer.

Jointly with partners from the university hospitals, the DKFZ operates the National Center for Tumor Diseases (NCT) in Heidelberg and Dresden, and the Hopp Children's Tumour Center KiTZ in Heidelberg. In the German Consortium for Translational Cancer Research (DKTK), one of the six German Centers for Health Research, the DKFZ maintains translational centers at seven university partner locations. NCT and DKTK sites combine excellent universtity medicine with the high-profile research of the DKFZ. They contribute to the endeavor of transferring promising approaches from cancer research to the clinic and thus improving the chances of cancer patients.

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.

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