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The American Society of Breast Surgeons (ASBrS) recommends testing of ALL patients diagnosed with breast cancer, but it’s important to note that some insurance companies may require specific criteria. If you don’t have breast cancer, but it runs in your family, it is essential to discuss your family history with your health care provider as guidelines also include testing for those with certain family histories of cancer.
BRCA1, BRCA2, PALB2, and other genes associated with hereditary cancer should be available to all patients based on their clinical scenario, family history, and/or personal history of breast cancer. Patients who have been tested in the past may also benefit from being tested again, as most tests prior to 2014 did not include PALB2 and other potentially relevant genes.
If a gene mutation is discovered, it does not mean you have cancer. Positive test results simply tell you about your inherited risk of developing cancer in the future.
While a positive gene mutation result does not mean that you currently have cancer or that you will develop it, it does indicate your risk is higher than those without that gene mutation. Your next step should be to find a health care provider who specializes in genetic risk assessment who can provide you with more insight into your mutation and what it might mean for you and your family.
Finding the right genetic specialist which could include a genetic counselor, nurse practitioner, physician assistant or physician with training in cancer genetics, is important to helping you and your family understand your hereditary risks. If you have concerns about breast cancer or other inherited health issues, then talk to your health care provider.
Your genetic specialist is a valuable member of your treatment team. They can help you better understand your risks for breast cancer and that understanding will give you greater peace of mind. With illnesses, knowledge is power, so talking with a genetic specialist will give you the information you need to know to make more informed decisions about your health today and in the future.
An inherited mutation in the BRCA1 or BRCA2 gene is the most common cause of hereditary breast cancer. These genes are called tumor suppressor genes. When healthy, they help to suppress cancer and make proteins responsible for repairing damaged Deoxyribonucleic acid (DNA). But when these genes mutate, or become altered, that protective barrier is lost, and you are more susceptible to developing certain cancers.
Women with BRCA1 or BRCA2 gene mutations have up to a 7 in 10 chance of being diagnosed with breast cancer by the time they reach 80 years old. Women with one of these mutations have a higher risk of being diagnosed with breast cancer at a younger age, as well as to have cancer in both breasts. The severity of this risk can vary depending on your family history and other personal and environmental risk factors for breast cancer. The risk can be greater if you have more family members affected with breast cancer, or other cancers such as ovarian, pancreatic, and prostate cancer.
When healthy, the PTEN gene is what’s known as a tumor suppressor because it naturally stops the growth of tumors. But when an inherited mutation in the PTEN gene exists, it can cause a rare disorder called Cowden syndrome that puts people at higher risk for both cancer and benign (non-cancer) tumors in the breast.
A PTEN genetic mutation can be inherited from your parents, or it can be acquired later in life from the environment or mistakes that happen when DNA is copied during cell division.
PALB2 is a gene that encodes a BRCA2-interacting protein that functions as a tumor suppressor. When healthy, the BRCA2-PALB2 interaction suppresses abnormal growth of cells and repairs normally occurring damage to DNA. When a mutation occurs, tumors are more likely to grow.
PALB2 gene mutations are considered rare among the general population, with about 1–2% of familial breast cancer cases being caused by it. Women with PALB2 mutations have up to a 53% risk of developing breast cancer by the age of 80. There may also be an increased risk for ovarian and pancreatic cancer, especially if you have a family history of these cancers.
Lott PC, et al. Resolving gastric cancer aetiology: an update in genetic predisposition. Lancet Gastroenterol Hepatol. 2018 3:874-883. PMID: 30507471.
Yang X, et al. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol. 2020 38:674-685. PMID: 31841383.
The CHEK2 gene is one of the body’s primary protectors against cancer. But when the gene is mutated, it stops working like it should and therefore can increase the risk for breast cancer.
CHEK2 mutations are rare, but the risk of developing breast cancer is higher in women who test positive for certain mutations in this gene. The risk can also be higher in families who have a first or second degree relative with breast cancer (1st degree – parents, siblings, and children) (2nd degree – grandparents, uncles, aunts, etc.). It is estimated that the average lifetime breast cancer risk is 27.6% for women with a CHEK2 mutation
When healthy, the ATM gene is responsible for controlling the rate of cell growth and division and assists in the repair of damaged DNA. But when the ATM gene is mutated, it stops working and becomes associated with cancer progression.
Research suggests that women who carry a mutation in the ATM gene have an estimated 20-60% increased risk for breast cancer. Women who test positive for the ATM gene mutation are also considered to be higher at risk of developing early-onset breast cancer. It can also increase the risk for pancreatic cancer and prostate cancer in men.
As a tumor suppression gene, the TP53 gene normally helps stop the growth of cells with damaged DNA. But when this gene has an inherited mutation, it can cause a syndrome known as Li-Fraumeni syndrome. Women diagnosed with this syndrome have an increased risk of developing breast cancer, as well as other types of cancer at early ages.
Fraumeni syndrome have nearly 100% chance of developing breast cancer. There is also a high risk for sarcomas, brain, and bone cancer. TP53 mutations can be complex and may occur with age or exposure to certain types of chemotherapy and are not associated with Li-Fraumeni syndrome. Consultation with a genetic specialist and testing of other family members may be needed to determine cancer risks associated with alterations in this gene.
Today, popular retail genealogy companies offer personalized health insights in addition to helping their customers track their family lineages.
Direct-to-consumer genetic tests can help give you an idea of what your risk level might be for certain diseases, including breast cancer, but their results do not include a comprehensive look at the gene or alterations which can impact cancer risks
Medical grade genetic tests are designed to give providers and patients the most accurate answer possible. As the science of genetics continues to evolve, genetic testing companies are constantly reviewing and evaluating new developments and providing insights for personalized treatment.
Genetic testing can be performed either with a blood sample or a saliva sample. Although saliva samples are just as accurate as blood samples, sometimes saliva samples may not collect enough DNA to complete the test and a blood sample may be needed.
This page is sponsored by Myriad Genetics. Find out if you are eligible for the Myriad Genetics MyRisk™ Hereditary cancer test: Myriad Genetics MyRisk™ Hereditary Cancer Test
Allison DiPasquale, MD
Breast Surgical Oncologist
Texas Oncology
“I am beyond honored to join the rockstar team of medical advisors at LLL. In a world of readily available information on the internet this company is the absolute best that I have seen to get the correct, physician vetted information directly into your hands. Wherever you are on your journey, LLL can be the ultimate source of information to help you gain knowledge and support as well as meet others just like you. ”
This page is dedicated to my dear friend Sammie. I will carry this torch for you forever!
“They say knowledge is POWER, and in the world of modern medicine, that has never been more true. Or in the case like mine, help save a life. Genetic testing has become more accessible and accurate thanks to advances in technology. It not only is used to confirm a diagnosis, but also can help predict how a disease will progress. Whether the outcome is positive or negative, it can help you and your family make informed decisions about health care management. Now that you know about genetic testing, will you have the power to save your life or the life of someone you love?”
-Sammie
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