Judith A. Salerno, M.D., M.S., President and CEO
Judith A. Salerno, M.D., M.S., is the President and Chief Executive Officer of Susan G. Komen®, responsible for the day-to-day operation of the organization and for setting Komen's strategic vision. Dr. Salerno brings extensive experience in research, public health policy and community health to the role.
Nancy G. Brinker, Founder
Nancy G. Brinker is regarded as the leader of the global breast cancer movement. Her journey began with a simple promise to her dying sister, Susan G. Komen, that she would do everything possible to end the shame, pain, fear and hopelessness caused by this disease. In one generation, the organization that bears Susan's name has changed the world.
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Komen Perspectives is a regular series that examines relevant research and allows us to share our perspective on a variety of current breast cancer topics.
The study of genetics and breast cancer has evolved rapidly over the past decade. In the past, genetic testing looked at only one or two genes, but now panel or multi-gene testing is becoming more common, even though the research in this area is still ongoing.
The link between family history and breast cancer was well known even before actress Angelina Jolie revealed she had a gene mutation that greatly increased her risk of the disease.
Ms. Jolie's story has certainly pushed the issue to the headlines. It’s sparked a great deal of interest in genetic testing for breast cancer, leaving many women to ask if it may be right for them - and for their families.
In addition, the study of genetics and breast cancer has evolved rapidly over the past decade. In the past, genetic testing looked at only one or two genes, but now panel or multi-gene testing is becoming more common, even though the research in this area is still ongoing.
The risk from different types of inherited gene mutations can vary greatly. Some slightly increase breast cancer risk, while others (like mutations in the well-known BRCA1 and BRCA2 genes) greatly increase risk.
Although family history and genetics are important risk factors for breast cancer, they account for only 5-10 percent of all cases in the U.S. . This means most breast cancers are not due to genetic factors, such as BRCA1/2 mutations.
In addition to BRCA1/2 mutations, other gene mutations known to increase breast cancer risk include :
Thankfully, they're not common.
About 1 out of every 400-800 people in the U.S. (or less than 1 percent) has a BRCA1/2 mutation .
In people of Ashkenazi Jewish decent, the rate is higher, around 1 in 40, or 2.5 percent .
The percentage of people in the U.S. with other high-risk gene mutations is less well understood.
Breast cancer risk varies by BRCA1/2 mutation [1,3-4]:
These compare to an 8 percent chance of developing breast cancer by age 70 for women at average risk in the U.S. . (Lifetime risk of breast cancer, up to age 85, is about 12 percent .)
While these risks are very high, a BRCA1/2 mutation does not guarantee that women will develop breast cancer.
Flipping the numbers, 35-45 percent of women with a BRCA1 mutation, and about 55 percent of those with a BRCA2 mutation, will not get breast cancer by age 70.
Women with BRCA1/2 mutations are also at risk for ovarian cancer .
Genetic testing is only recommended for people whose personal or family history of breast cancer shows they might have a genetic mutation that increases the risk of breast cancer.
For example, testing is recommended if :
Websites such as the Centers for Disease Control and Prevention's Know:BRCA can help you work through your family history to see if testing may make sense. However, such tools should only be a starting place.
There are many things to consider before genetic testing. So, it's important to talk in detail with a trained physician or genetic counselor to see if testing is right for you.
The study of genetics and breast cancer has evolved rapidly over the past decade.
Traditionally, genetic testing looked at only one or two genes, focusing most often on BRCA1/2.
Increasingly common today is testing for BRCA1/2 along with multiple other high-risk gene mutations (called panel or multi-gene testing).
The evidence on panel testing is still developing. However, some studies have shown it can accurately find BRCA1/2 and other important high-risk mutations that can help manage a person's breast cancer risk [2,6-7].
Because panel testing is still relatively new, the specific set of mutations assessed can vary from test to test. This can have an impact on how results are interpreted and how the information is used .
As with traditional genetic testing, panel testing should only be done in a medical setting after a detailed discussion of risks and benefits with a trained physician or genetic counselor [2,8].
Despite great marketing, at-home testing for gene mutations related to breast cancer isn't recommended.
The U.S. Food and Drug Administration, U.S. Federal Trade Commission and Centers for Disease Control and Prevention all caution against the use of at-home testing kits.
Only testing in an in-person medical setting provides the accuracy and expert counseling that are essential to genetic testing.
The test itself is very simple. A small blood or saliva sample is taken and sent to a lab to be analyzed.
Results can take several weeks to come back and are typically sent to your physician or genetic counselor.
Health insurance usually covers the cost of genetic testing for people considered at risk for having a breast cancer gene mutation (when it is recommended by a health care provider). However, if you have questions about coverage, talk with your insurance provider.
It can be a shock to learn you have a gene mutation that increases your risk of breast cancer.
However, if you have a mutation, there are steps you can take to lower or manage your risk.
Women with a BRCA1/2 mutation typically have three options:
Each choice has benefits and drawbacks, which should be discussed in detail with a trained physician.
Guidelines for managing risk in women with other high-risk gene mutations are less clear, but developing.
Additional screening is most commonly recommended, with preventive surgery an option in certain cases .
Most breast cancers are not due to family history or genetic factors, such as BRCA1/2 mutations.
Genetic testing is only recommended for certain people at high risk based on their personal or family history of the disease. Testing should only be done in a medical setting with a trained physician or genetic counselor.
BRCA1/2 are the most well-known gene mutations and greatly increase breast cancer risk. Women with these mutations can often take steps to manage or lower their risk.
Expanded panel testing for BRCA1/2 and other high-risk mutations is becoming more common and can provide useful information about breast cancer risk.
Komen Scholar, William Foulkes, MB.BS., Ph.D., James McGill Professor of Human Genetics and Oncology and Director of the Program in Cancer Genetics at McGill University and Head of the Cancer Genetics Laboratory at Lady Davis Institute for Medical Research at the Jewish General Hospital shared his thoughts on genetic testing.
“Much has changed since Komen last covered genetic testing in a Komen Perspectives article in 2012 (What is Genetic Testing For Breast Cancer and Who Should Get It?). This new Komen Perspectives article emphasizes that testing for genes other than just BRCA1 and BRCA2 (so-called panel testing) is now available to many women at risk. Moreover, the Supreme Court of the United States determined that DNA in its native state was not patentable. Many companies are now offering genetic testing and the costs have fallen dramatically. Genetic testing can provide important information about breast cancer risk, especially for women with a strong family history of the disease. Komen continues to encourage women to obtain independent, professional advice before undergoing genetic testing.”
“Much has changed since Komen last covered genetic testing in a Komen Perspectives article in 2012 (What is Genetic Testing For Breast Cancer and Who Should Get It?). This new Komen Perspectives article emphasizes that testing for genes other than just BRCA1 and BRCA2 (so-called panel testing) is now available to many women at risk.
Moreover, the Supreme Court of the United States determined that DNA in its native state was not patentable. Many companies are now offering genetic testing and the costs have fallen dramatically.
Genetic testing can provide important information about breast cancer risk, especially for women with a strong family history of the disease. Komen continues to encourage women to obtain independent, professional advice before undergoing genetic testing.”
Since 1982, Komen has invested more than $28 million in research focused on hereditary breast cancer.
As a result of this research we have learned that:
Ongoing research includes:
Komen has also invested more than $5 million in research specifically focused on the psychosocial and other aspects of genetic counseling and testing for hereditary breast cancer.
Inherited Gene Mutations
BRCA1 and BRCA2
Questions to Ask Your Doctor: Inherited Gene Mutations and Breast Cancer Risk
Genetic Counseling and Testing for BRCA1 and BRCA2 Mutations
Options for Women at Higher Risk Facts for Life: Genetics and Breast Cancer Research Fast Facts: BRCA Genes and Breast Cancer
Komen Support Resources
Posted May 23, 2016
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