deCODE scientists have reported the discovery of two common single-letter variants (SNPs) that are associated with an elevated risk of estrogen receptor-positive (ER+) breast cancer.
The first variant of the most importance, SNP (known in the genetic community as ‘rs4415084′), is carried by more than 60% of women and can increase risk of developing ER+ breast cancer by 50 percent when inherited from both parents. The second variant can only occur in conjunction with the first, but further adds to a person’s susceptibility. These inherited alterations to human DNA are so common that researchers have postulated they are responsible for approximately 11% of all breast cancers.
What this discovery means is that diagnosticians will more readily be able to determine risk for a given patient based on these indicators. deCODE plans to apply this newly acquired knowledge to the development of potential pharmaceutical treatments for ER+ breast cancer.
With regard to this advancement, CEO of deCODE Genetics, Inc. Kari Stefansson stated: “Within the past two years we have identified specific sequence variants that underlie much of the inherited risk of the common forms of breast cancer, the most frequently diagnosed cancer in women. And we have now reached a long awaited tipping point in this progress: the ability to identify, through a simple genetic test, a large proportion of women who are at a clinically- meaningful risk of the disease. The rationale for such testing is all the more compelling in ER+ cancers, since drugs such as tamoxifen have been shown to be successful in preventing as well as treating these cancers, and other drugs now in development may prove to be safe as long-term prophylactic therapy as well.”
Stefansson continued, “deCODE’s pioneering work in this field has also demonstrated that ER+ and ER- breast cancer appear to have distinct genetic bases, a phenomenon which may open the way to a better understanding of the nature, treatment and prevention of breast cancer in general. One of the most pressing next steps in this research is to analyze these results in large cohorts of women of non-European descent.”
deCODE is working to provide new treatment and testing methods for a range of ailments. In addition to its work on different types of cancer, deCODE scientists are laboring to enhance DNA-based diagnostics of Type 2 diabetes, heart attack, and stroke. It is reassuring to know that there are organizations dedicated to pioneering change, and in effect, to saving human lives.
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