Study Scientists discover 14 new breast cancer risk genes

Family risk: 14 new breast cancer risk genes identified

Researchers have identified 48 genes whose activity is associated with breast cancer risk. Among them are 14 genes that have not yet been linked to breast cancer. Examination of these genes could provide further insight into the tumor biology of breast cancer and thus potentially identify targets for new therapies.

Cancer with the highest death rate

According to health experts, breast cancer is the cancer with the highest death rate among women in Germany. Every year, around 17,000 people die from it and around 70,000 fall ill each year. Although there are still many questions about the causes of breast cancer, according to the Cancer Information Service of the German Cancer Research Center (DKFZ), the following factors can be derived from large studies that influence a woman's risk of illness: age, hormonal situation, lifestyle and possibly inherited risk genes. In a new study, researchers have now identified 48 genes whose activity is associated with breast cancer risk. Among them are 14 genes that have not yet been linked to breast cancer.

Researchers have discovered 14 new breast cancer risk genes. These should now be examined more closely. From this the scientists expect a more precise understanding of the tumor biology of breast cancer. (Image: WavebreakMediaMicro / fotolia.com)

Increased familial risk

As the DKFZ writes in a recent communication, the familial risk of women whose direct relatives have breast cancer is about twice that of the general population.

There are already a variety of genetic markers associated with the increased risk. These markers are usually identified by so-called genome-wide association studies.

Researchers are testing millions of tiny genomic variants that differ from each other only in a single DNA building block (SNPs "single nucleotide polymorphisms") to an association with breast cancer risk.

"We are particularly interested in those SNPs associated with gene expression in breast tissue. We expect them to help us identify genes that contribute to breast cancer development through altered activity, "said Jenny Chang Claude of the DKFZ.

The researcher, along with numerous other colleagues from the DKFZ, is one of the authors of a study recently published in the journal Nature Genetics.

Genes involved in the development of breast cancer

The aim of the international project was to identify yet unknown genes that may be involved in the development of breast cancer.

For this purpose, the researchers first identified SNPs associated with altered expression of individual genes. These SNPs were then tested for a relationship with breast cancer risk.

Wei Zheng's work at Vanderbilt University Medical Center, Nashville, Tennessee, USA, involved more than 160 research groups worldwide.

In total, genetic analysis of 229,000 women was included in the study, more than half of whom had breast cancer. Studies of this magnitude are necessary in order to make statistically reliable statements about the individual SNPs.

Important mechanisms in carcinogenesis

In the end, the experts identified 48 genes whose altered expression was significantly associated with increased breast cancer risk. 14 of these were not yet known to be associated with breast cancer.

13 of the 48 genes with a particularly high risk association were targeted by researchers in different breast cancer cell lines.

In eleven cases, this resulted in changes in cell growth and ability to colonize - both are considered important mechanisms in carcinogenesis.

All genes identified in the study now want to characterize the scientists more functionally. From this they promise 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 drugs. (Ad)