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The American Society of Breast Surgeons (ASBrS) supposes the 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, then it is essential to discuss all cancer in your family with your doctor.
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BRCA1, BRCA2, PALB2, and other types of genetic testing 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.
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If a gene mutation is discovered, it does not automatically mean that you have cancer. Positive test results simply tell you about your inherited risk of developing cancer in the future.
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While a positive gene mutation result does not mean that you currently have cancer or that you will eventually develop it, it is something that you should take seriously. Your next step should be to find a genetic counselor who can provide you with more insight into your mutation and what it might mean for you and your family.
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Finding the right genetic counselor 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 doctor.
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Your genetic counselor is a valuable member of your treatment team. They can help you better understand your risks or your breast cancer and that understanding will give you greater peace of mind. With illnesses, knowledge is power, so talking with a genetic counselor will give you the information you need to know to make more informed decisions about your health today and in the future.
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An inherited mutation in the BRCA1 or BRCA2 gene is the most common cause of hereditary breast cancer. When healthy, these genes help make the proteins responsible for repairing damaged DNA. But when these genes mutate, they can cause abnormal cell growth, which can lead to cancer.
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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 is affected by how many other family members have had breast cancer, so the more family members that have been affected, the higher your risk is.
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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 breasts.
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A PTEN genetic mutation can be inherited from your parents, or it can be acquired later in life from the environment. It can also develop from a mistake that happens in your body during cell division. A PTEN test is typically not a routine test. It is usually only given to women based on their family history, symptoms, and/or previous diagnosis of breast cancer.
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PALB2 is a gene that encodes a BRCA2-interacting protein that functions as a tumor suppressor. When healthy, the BRCA2-PALB2 interaction repairs normally occurring damage to DNA cells, so when a mutation occurs, tumors are more likely to grow.
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PALB2 gene mutations are considered rare among the general population, with about 1–2% of familial breast cancer cases being caused by it. But a recent study in the New England Journal of Medicine showed women who carry a mutation in the PALB2 gene are 35% more likely to be diagnosed with breast cancer by age 70, compared with women who don't carry the mutation.
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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 increases a woman’s chance of being diagnosed with breast cancer.
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CHEK2 mutations are rare, but the risk of developing breast cancer is higher in women who test positive for truncating mutations in this gene. The severity of this risk correlates with your family history and increases if you have first- and second-degree relatives who have also had breast cancer. CHEK2 mutations are responsible for approximately 5% of familial breast cancer cases; 8.8% of bilateral breast cancer cases; and 18.2% of patients with hereditary breast and colorectal cancer family history.
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When healthy, the ATM gene is responsible for controlling the rate of cell growth and division and it assists in the repair of damaged DNA. But when the ATM gene is mutated, it stops working and becomes associated with cancer progression.
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Studies have shown that women who carry a mutation in the ATM gene are 20% to 60% more likely to be diagnosed with 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 and/or bilateral breast cancer, as well as ovarian cancer.
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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.
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TP53 mutations develop at birth and whereas this mutation was once considered extremely rare, it is now believed to exist in about 1 in 5,000 to 1 in 20,000 births. Women with positive TP53 mutations have a 50% chance of being diagnosed with breast cancer at some point in their lives.
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Today, popular genealogy companies like AncestryDNA offer personalized health insights in addition to helping their customers track their family lineages. Using one of their saliva kits may help you determine if you are at increased risk of developing a hereditary disease.
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DNA ancestry tests can help give you an idea of what your risk level might be for certain diseases, including breast cancer, but their results should be taken with a grain of salt because their tests are not validated by independent scientists.
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Genetic testing can be performed either with a blood sample or a saliva sample. While saliva sampling is simpler and less invasive, and often preferable for people with anxieties about having their blood collected, a blood test provides more accurate results.
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Studies show that saliva samples contain 37.3% less amplifiable human DNA when compared with blood samples. As a result, genetic testing performed using saliva samples demonstrate a substantially lower genotyping call rate on the DMET array when compared with genetic testing performed using blood samples.
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With Ancestry and other genealogical services starting to provide genetic testing for diseases, more people will gain a deeper understanding of the potential hereditary health concerns they may be at risk of.
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If you have a blood relative who has or had breast cancer, then you should have genetic testing done by a vetted gene testing company instead of using a DNA genealogical company. Unlike Ancestry, vetted gene testing companies only test genes to determine if the donor is at risk of developing an inherited disease and their results are validated by independent scientists.
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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. ”
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