Today, Susan G. Komen announced some exciting news about being part of the discovery of a newly identified breast cancer susceptibility gene, known as RECQL, which will lead greater understanding of one’s personal risk. The results were published today in the publication Nature Genetics.
“This study is representative of the work and progress our organization makes towards detecting breast cancer at its earliest stages – when there are more options for treatment,” says Andrew Asato, CEO of Komen Oregon and SW Washington.
Asato also says, “This discovery lays the groundwork for further studies that can help women worldwide identify their genetic risk of breast cancer and take action earlier for their health.” As always, Komen Oregon and SW Washington advocates regular screenings starting at the age of 40.
The finding is significant because genetic mutations are very difficult to identify. Only about 5 to 10 percent of breast cancers are inherited, but only about half of the genetic links to breast cancer have been identified.
Lastly notes Asato, “We know from recent studies that breast cancer will continue to increase. In fact, one recent study points to the 40 million American women who were born between 1946 and 1964 will face high absolute risks for postmenopausal breast cancer. Our mission of standing behind early detection, survivor support, research and advocacy remain of national and international importance.” See below the progress that has been made, but it’s imperative we continue to stay the course and let up on our fight to end breast cancer forever.
Study Highlights and More Information
The study featured an important contribution from Komen Scholar Dr. William Foulkes of McGill University (Montreal, Quebec) who has received long-term funding from Komen, including $1.125 million in grants for this work.
Dr. Mohammad Akbari (University of Toronto), and Cezary Cybulski (Pomeranian University, Szczecin, Poland) led the study.
As a Komen Scholar, Dr. Foulkes is one of 70 breast cancer researchers and advocates who advise Komen on research funding.
According to Dr. Foulkes: "The support I received from Komen was critical in identifying RECQL mutations in the Quebec population. The generous, far-sighted support of our work over several years allowed us to reap the benefits of modern technology and contribute to the identification of a new breast cancer susceptibility gene."
This research was funded in part by Susan G. Komen, the Polish National Science Centre, Women’s College Research Institute, Cancer Research Society, Quebec Breast Cancer Foundation, and the Canadian Institutes of Health Research.
Why is this groundbreaking?
Genetic mutations that can lead to breast cancer are very difficult to identify. Dr. Mary Claire-King identified the first – the BRCA mutation – in 1990. Although only about 5-10 percent of breast cancer cases are considered hereditary, only about half of the genetic mutations that lead to inherited breast cancer have been identified. That makes this an important discovery.
What does it mean for women?
Over time, it can mean that women will have another tool to identify genetic risk for breast cancer and make decisions, such as surgical or other procedures, to reduce their risk of developing the disease.
How would women know they have this mutation? Can they be tested for this today?
There is no commercially available test developed for this mutation at this point, but the study lays the groundwork for further studies about how the mutation works, its prevalence in breast cancer patients, and the best approach for testing for it.
What was Komen’s role in this discovery?
In addition to long-term funding of Dr. Foulkes, Komen provided $1.125 million in funding for his work on this study in Quebec. Over time, the investigation expanded to include women in Poland and involved funding from many sources.
Additional Information:
1. Susan G. Komen Press Release
3. Susan G. Komen Oregon and SW Washington Facebook
We are proud of our contribution to some very real victories, but there is still more to do. The need is urgent in Oregon and SW Washington - every week 70 women and men are diagnosed. 10 will die.
Susan G. Komen Oregon and SW Washington
- $30 million invested back into Oregon & SW Washington over the life of affiliate.
- $11.5 million of that goes to research including researchers at Providence Cancer Center and Oregon Health and Science University Knight Cancer Institute.
- Most recently Komen Scholar Dr. Joe Gray, of OHSU Knight Cancer Institute recently received $200,000 in continued funding from Komen. Dr. Gray is working to design more specific drug combinations for types of breast cancer that have become resistant to treatment.
- Nearly $19.2 million has funded community programs and services that support early detection, survivor support and advocacy for underserved populations.
National Susan G. Komen statistics
- More early detection and effective treatment. Currently, about 70 percent of women 40 and older receive regular mammograms, the single most effective screening tool to find breast cancer early. Since 1990, early detection and effective treatment have resulted in a 34 percent decline in breast cancer mortality in the U.S.
- More hope. In 1980, the five-year relative survival rate for women diagnosed with early stage breast cancer was about 74 percent. Today, it’s 99 percent.
- More research. The federal government now devotes more than $850 million each year to breast cancer research, treatment and prevention, compared to $30 million in 1982.
- More survivors. Today, there are more than 3 million breast cancers survivors in the U.S.
