By: Dr. Judy Salerno
Susan G. Komen President & CEO
The following blog appeared in The Huffington Post on May 21, 2015.
In 2014 Congress declared May as National Cancer Research Month to recognize innovative work being done to find cures for cancer in all its forms.
Perhaps some of the most innovative work in the field being done today centers around genomics and related fields such as proteomics. They have given researchers new ways to understand susceptibility to cancer — especially breast cancer — and therefore new targets for treatment. Knowing how critical this work can be to ending breast cancer once and for all, Susan G. Komen has funded millions in research solely focused on identifying new genetic mutations in inherited breast cancer.
We were proud to see our investment in breast cancer research pay dividends, as it did on April 27 when a study published in Nature Genetics reported the discovery of a new breast cancer susceptibility gene called RECQL. The study was led by Dr. Mohammad Akbari at the University of Toronto and Cezary Cybulski at Poland’s Pomeranian University. They were supported by important contributions from Susan G. Komen Scholar Dr. William Foulkes of McGill University in Montreal, who provided convincing data showing that RECQL is a breast cancer susceptibility gene.
Once RECQL was identified, researchers analyzed genetic data from French-Canadian and Polish women who had been diagnosed with breast cancer, had a strong family history of cancer and/or a young age of onset, and lacked mutations in the BRCA1 and BRCA2 genes. Researchers concluded that the group was more likely to carry the RECQL gene mutation than a control group. In all, more than 25,000 women participated in the study. By working within two specific nationalities, the RECQL study can serve to spur further population-based research, which may, in turn, lead to the identification of additional genetic mutations.
This is critically important, because breast cancer susceptibility genes and their associated mutations are difficult to identify. The hard work of discovering these genes must keep moving forward, because all the mutations in breast cancer susceptibility genes currently known account for only half of all inherited breast cancer risks.
The knowledge gained by research must of course be shared with the public so that women (and men) can work with their healthcare providers to manage their risks and, if needed, take action.
That’s why we were also excited in April to see Color Genomics join the ranks of researchers and companies working on an affordable genetic screening test for breast and ovarian cancer that requires only a sample of saliva to detect the presence of 19 cancer-risk genes, including BRCA1 and BRCA2.
We are hopeful that these kinds of tests can be offered at low cost to eliminate financial barriers and expand access for women.
But as we add to the store of available knowledge about breast cancer risk, it’s important to remember that this knowledge must be assessed carefully. Not all of the 19 cancer-risk genes identified to date pose the same level of threat. Genetic testing must be coupled with genetic counseling to help women understand their risks.
The BRCA1 mutation is especially important to identify, as its carriers have a 55- to 65-percent chance of developing breast cancer by age 70 and are at higher risk for developing triple negative breast cancer, an aggressive form of the disease. On the other hand, many of the other cancer-risk genes pose a lower risk, which means a carrier of a specific gene might have a 20-percent greater chance of developing breast cancer.
As new risk factor genes are identified, and as genetic testing for breast cancer risk becomes more accessible, that testing must be approached with the understanding that it empowers women to weigh their personal risks objectively and consult with their medical provider about possible courses of action.
Our course of action is clear. As a nation, we must continue to support the work of researchers who are unlocking the genetic keys to breast cancer. Their efforts bring us ever closer, every day, to finding better treatments and cures.
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