• An Exciting Scientific Discovery – the RECQL Breast Cancer Susceptibility Gene



    One of the most important elements of the Susan G. Komen mission is funding breast cancer research, and today, we’re excited to share an important breakthrough made possible in part by more than $1 million in Komen funding.

    A study published today in Nature Genetics, marks the discovery of a new breast cancer susceptibility gene called RECQL. Led by Dr. Mohammad Akbari (University of Toronto) and Cezary Cybulski (Pomeranian University, Szczecin, Poland), this work featured an important contribution from Komen Scholar Dr. William Foulkes of McGill University (Montreal, Quebec) who has received long-term support from Komen, and a $1.125 million grant in 2010 for this work. Working with Quebec colleagues based at McGill and at the University of Laval, Foulkes was able to provided convincing data to support the candidacy of RECQL as a new breast cancer susceptibility gene.

    The research is groundbreaking, because breast cancer susceptibility genes and their associated mutations are difficult to identify. In fact, all of the mutations in breast cancer susceptibility genes that we currently know of (including BRCA1 and BRCA2) account for just half of all inherited breast cancer cases.

    But Dr. Foulkes’ work lays the foundation for more discoveries that may one day help women assess their risk and take action for their health. We learned this from Dr. Mary-Claire King’s identification of the location of the BRCA1 gene in 1990. Researchers knew then that BRCA1 would be an important gene, but it took several years before it could be determined with certainty that BRCA1 mutation carriers have a 55 to 65 percent chance of developing breast cancer by age 70 (much higher than women at average risk). Or, that women who have a BRCA1 gene mutation are at a higher risk of developing triple negative breast cancer – an aggressive and potentially lethal form of the disease.

    Subsequently, in work also funded by Komen, another important breast cancer gene, PALB2, was found to lead to a 35 percent risk for breast cancer by age 70, showing that these initial discoveries do lead to the acquisition of clinically meaningful data.

    This knowledge led to tests for BRCA and PALB2 gene mutations that have helped women and men with the mutation make decisions about their own health, based on their individual risk. The same potential exists for the RECQL mutation if and when testing for the mutation is available.

    While we know there is still a lot to learn about both the RECQL gene mutations and breast cancer in general, we’re eager and excited to see what the future holds.

    And we are even more inspired to keep funding research that will end this disease. We fund along the entire cancer spectrum – from causes to cures – to reduce mortality and incidence of breast cancer.

    Read more about the RECQL discovery in our press release.

    Read more about Komen-funded research.

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