Hello, Warriors! Welcome to The Breast Place blog and thank you for taking time out of your active schedule to visit! We appreciate our readers to the utmost degree, as we do our patients. Hopefully, you’re taking advantage of the current climate and enjoying our lovely city in autumn. If this is your first visit to The Breast Place blog, we cover a range of topics here. From breast cancer management to anti-aging skin treatments to helpful tips for maximizing your overall health and wellness—The Breast Place is committed to sharing the best health practices and treatment options with you! Our offices are open and our staff is prepared to answer any questions you may have about your health, your breast cancer risk, and how to reach your aesthetic goals.
At The Breast Place, we offer several oncoplastic surgical procedures, such as natural reconstruction, nipple-sparing mastectomy, Hidden Scar™, implant reconstruction, and breast lift with or without reduction. Oncoplastic surgery is distinct from both breast cancer surgery and plastic surgery–though you initially assume oncoplastic surgery to be a mixture of both. Rather, the aim of oncoplastic breast surgery is “to achieve good aesthetic outcomes for women with breast cancers who would have unacceptable outcomes with other BCS techniques, and in addition, enable breast-conserving surgery for larger breast cancers.” While breast cancer surgery prioritizes the eradication of cancerous tissue and plastic surgery prioritizes the cosmetic appearance of the breasts, oncoplastic surgery takes both of these aspects into account when planning for the final outcome. Our last article was dedicated to what you should look for in an oncoplastic surgeon. We discussed specific certifications available to those who perform oncoplastic surgery, how to judge past outcomes, experience levels, seeking a second opinion, and more! If you’re on the hunt for a skilled, experienced oncoplastic surgeon, we recommend giving our latest article a read and then reaching out to us!
Before we dive into today’s topic, we’d like to make you aware of a few promotions available at The Breast Place this February. Though this month is often associated with romantic love, it’s important we remember to also love ourselves. Do we feel good and strong within our own bodies? Have we been practicing self-care with consistency and intentionality? If the answer is no, now is the time to start. If the answer is yes, then continue! The Breast Place is here to help! We’re offering $150 off each syringe of Juvederm Ultra XC, so you can have extra kissable lips this month. As well, each unit of Dysport is only $3. Our Grande Bundle—which includes GrandeLash, GrandeBrow, and GrandeMascara—is only $125. All products ship free! If you haven’t received a breast screening in a while, we encourage you to schedule one. (You can perform a self-exam in the meantime using this resource.) Overall, use February to catch up on your sleep, move your body, eat a balanced diet and prioritize your own wellbeing.
Today, we’ll be discussing the implications of genetic testing. Genetic testing is an invaluable resource for detecting those genetic mutations which leave us at an increased risk of developing certain cancers and diseases. This detection can help individuals prepare for the future, make informed decisions about their care, and preempt the actual formation of a particular cancer or disease. That said, many individuals aren’t entirely prepared for the process of genetic testing. From how long it’ll take to receive results to how to deal with the emotional aftermath—genetic testing can be shrouded in mystery. We hope to peel back the veil and give those about to undergo genetic testing a sense of what to expect. At The Breast Place, genetic testing and family history go hand-in-hand. We partner with Ambry Genetics to offer a self-assessment, which—based on the answers you provide—can give you a better sense of your risk status. If you are at an increased risk, then genetic testing may be for you. We partner with AmbryCARE to perform comprehensive genetic assessments based on your DNA sample. To read more about the importance of genetic testing, the process of genetic testing, and who should be tested—check out our previous article about genetic testing.
Not all gene mutations lend themselves to an increased chance of developing breast cancer. The chart below seeks to give a brief overview of each gene and its implications. If you test positive for any of these genetic mutations, you’ll want to have a more in-depth discussion with your genetic counselor to understand the minute implications.
Genes and Implications
Breast cancer type 1 susceptibility protein (BRCA1) is a type of protein responsible for repairing damaged DNA strands. Known as a caretaker gene, BRCA1 serves to regulate the repair of chromosomal damage, ensuring all damaged genetic information is restored correctly. Damaged DNA stands can cause cells to grow abnormally or multiply quickly. BRCA1 keeps our cells stable and, as such, is considered one of the primary human tumor suppressor genes. When our BRCA1 gene is mutated, its ability to regulate DNA repair is impaired and we are left more susceptible to tumor formation. Between 55% and 72% of females with a harmful BRCA1 mutation will develop breast cancer before the age of eighty. A BRCA1 mutation is associated with an increased risk of developing breast cancer (including triple-negative breast cancer), ovarian cancer, pancreatic cancer, and prostate cancer.
Breast cancer type 2 susceptibility protein (BRCA2) is actually a completely unrelated protein to breast cancer type 1 susceptibility protein (BRCA1), though it is also a human tumor suppressor gene. BRCA2 plays an equally significant role in repairing damaged DNA. Technically, BRCA2 is a “mediator of the core mechanism of homologous recombination,” while BRCA1 is a “pleiotropic DDR protein that functions in both checkpoint activation and DNA repair.” Each gene has its specific role. Between 45% and 69% of females with a harmful BRCA2 mutation will develop breast cancer before the age of eighty. A BRCA2 mutation is associated with an increased risk of developing breast cancer, ovarian cancer, melanoma, pancreatic cancer, and prostate cancer.
PALB2 stands for partner and localizer of BRCA2 and is also known as FANCN. This protein is responsible for repairing double-strand breaks and, therefore, is responsible for protecting the human genome. When we develop breast cancer, the PALB2 gene protein binds to the BRCA2 gene protein and helps carry out its functions within the body (as well as localize its presence, thus stopping tumor growth). You can inherit a mutated PALB2 gene but have two normal BRCA1 and BRCA2 genes. However, in this case—if both of your inherited PALB2 genes are mutated—you are at an increased risk of being diagnosed with breast cancer. This risk is about 9.47 times higher. “Women with an abnormal PALB2 gene had a 14% risk of developing breast cancer by age 50 and a 35% risk of developing breast cancer by age 70.” A PALB2 mutation is associated with an increased risk of developing breast cancer, pancreatic cancer, and ovarian cancers.
Checkpoint Kinase 2, or CHEK2, is a “cell cycle checkpoint regulator and putative tumor suppressor.” This means, when damaged DNA causes our cells to grow or multiply rapidly, CHEK2 kicks in and acts as a roadblock. CHEK2 also works in tandem with BRCA1 and BRCA1 to ensure our cell’s continued survival even after cell damage has occurred. If you have a harmful mutation to the CHEK2 gene, you are twice as likely to develop breast cancer (as a woman), as well as colorectal cancer, prostate cancer, thyroid cancer, ovarian cancer, and kidney cancer.
ATM serine (ATM) or threonine kinase is only activated by double-strand DNA breaks. When DNA is damaged, ATM proliferates several proteins which trigger the checkpoint (mentioned in CHEK2). This checkpoint results in one of three things: cell cycle arrest (full-stop), DNA repair (fix), or apoptosis (cell death). These functions are carried out by other gene proteins, such as BRCA1, BRCA2, CHEK2, and others. A mutated ATM gene can result in a 20-60% increased chance of developing breast cancer; it is also associated with a condition called ataxia-telangiectasia (AT), which is characterized by a lack of muscular coordination, lessened immunity, and a predisposition to certain cancers.
Learning you have a genetic mutation can be disorienting, frightening, and overwhelming. It’s important to realize you are not alone and you do have options concerning how you wish to process. Discuss these options—as well as any emotions you may be experiencing—with your genetic counselor and medical provider. The Breast Place is committed to empowering women. Knowledge is power. If you have any questions about how your family history affects you, about genetic testing, or about any of the genes mentioned here today, schedule a consultation with The Breast Place today. Thank you for taking the time to read today’s article and we hope you’ll check back in for future posts about treatments, wellness, and more!
The Importance of Genetic Testing
Hello, Warriors! How are you? We hope you’re living your best life and staying active. Late summer is a wonderful time to enjoy the outdoors and catch a little fresh air. Thank you for visiting The Breast Place blog and welcome! We cover a range of topics here, from breast cancer management to skin care treatments to women’s overall health and wellness. The Breast Place is committed to sharing the best health practices and treatment options with you! Check out our previous posts about teaching your daughters how to perform a self-exam and how the water you’re using may be affecting your skin! And, of course, be sure to return here for further rips on how to improve and prioritize your health!
Today, we want to give you an in-depth look at what exactly genetic testing entails. We’ll go over who is best suited for genetic testing, as well as its ramifications on breast cancer treatment. If genetic testing is something you’ve been considering for a while, then this article is definitely for you. Likewise, if genetic testing is simply something you’d like to be better informed about, read on!
What is Genetic Testing?
Genetic testing began in the 1950s when scientists discovered a replication of chromosome 21 causes Down’s syndrome. The staining of chromosomes, referred to as karyotyping, allowed scientists to count the number of chromosomes present in DNA. Since then, advancements have afforded scientists the ability to isolate individual chromosomes and identify structural mutations. Various mutations in genes can expose us to increased risk for certain diseases, illnesses, and cancers. Often, these genetic mutations are inherited. Genetic testing offers individuals the option to be aware of which illnesses they are genetically predisposed to developing, as well as alter their lifestyles in order to decrease their risk of developing these illnesses.
Known Harmful Genetic Mutations
The most significantly harmful genetic mutations which increase the likelihood of developing breast cancer are the BRCA1 and BRCA2 genes. The capability to test for these specific genes was only acquired as recently as 1996. Individuals, both men and women, who carry one or both of these genetic mutations are determined to have Hereditary Breast and Ovarian Cancer Syndrome (HBOC). This syndrome increases women’s risk of developing breast, ovarian, pancreatic, and other forms of cancer. Similarly, this syndrome increases men’s chances of developing breast, prostate, pancreatic, and other forms of cancer.
The BRCA genetic mutations are not the only genetic mutations which can increase an individual’s likelihood of developing breast cancer. The other genes which can harbor harmful mutations are the PALB2, CHEK2, ATM, PTEN, and TP53 genes. Not all genetic tests check for inherited mutations associated with these genes. If a family member of yours has a genetic mutation associated with one of these genes, you should discuss being tested for these mutations with your genetic counselor.
According to research, an estimated five to ten percent of breast cancers are the result of an inherited genetic mutation. Further, between fifty-five and seventy-two percent of females with the harmful BRCA1 mutation variation, and forty-five to sixty-nine percent of females with the harmful BRCA2 mutation variation, are likely to develop breast cancer before the age of eighty. These staggering statistics provide a strong basis for early genetic testing, especially for those with a family history of multiple cancers.
Who Should Be Tested
It is not recommended that everyone be tested for genetic mutations associated with breast cancer. If you or a close family member were diagnosed with breast cancer at a young age, or triple negative breast cancer (which tests negative for estrogen receptors, progesterone receptors, and excess HER2 protein), then you should be tested. The number of family members diagnosed with breast cancer, the age they were when they were diagnosed, and how close they are in relation to you, all affect your chances of having a harmful genetic mutation. If you have a family member who has tested positive for one of the harmful BRCA mutations, then you should be tested. If you are of Ashkenazi Jewish descent or have been diagnosed with breast cancer a second time (not a recurrence of the first cancer), then you might be more likely to have a harmful genetic mutation.
The Process of Genetic Testing
To begin with, you should consult a genetic counselor or genetic specialist. This professional will be able to, using your family history, estimate your risk for certain genetic mutations. They will be able to put together a panel of genes to test for and answer any questions you may have about the potential results. Testing can target a specific mutation or a range of different mutations, depending on your situation. Once you’ve determined which genetic mutations to test for, a medical professional will collect a sample of your blood or saliva (by cheek swab). This sample will then be sent off to a lab to be reviewed.
You can expect your results to be returned within two to four weeks, allotting extra time for more extensive testing panels. When analyzing the reported results of your genetic testing, you may be confused by the answer. You can receive a positive result, which means you do indeed have a harmful genetic mutation and there are steps which you can subsequently take to decrease your risk of developing breast cancers (and other cancers). You can receive a negative result, however this doesn’t necessarily ensure you do not have a harmful genetic mutation. There is a chance you were not tested for the full range of genetic mutations and a harmful genetic mutation predisposing you to breast cancer has been missed. In this case, further testing would be required. You can also receive an inconclusive result, which means the tests were not able to determine whether you do or do not have harmful genetic mutations. Finally, you can receive a positive for a variant of unknown significance (VOS) result, which means you’ve tested positive for a genetic mutation which science hasn’t yet connected to an increased or decreased risk.
There is still much work to be done in genetic testing research. For this reason, you must take any results from genetic testing with a grain of salt. Genetic testing is, on the whole, incredibly accurate. Still, you’ll want to have your results interpreted and explained by a genetic counselor who can give you a plan for the immediate future regardless of your results.
There are at-home genetic testing kits available and approved by the FDA. However, these kits usually only test for a handful of the BRCA mutations, and not the over one-thousand variations which exist. Therefore, they cannot provide much by way of comfort or relief, even with a negative result.
Impact on Treatment
If you have been diagnosed with breast cancer, or diagnosed with breast cancer for a second time, undergoing genetic testing and being determined positive for a harmful genetic mutation can affect your treatment plan. According to research comparing breast cancer patients who tested positive for BRCA mutations and breast cancer patients who tested negative for BRCA mutations, BRCA-positive patients underwent double-mastectomy surgeries much more often than BRCA-negative patients (66% > 24%). Conversely, BRCA-positive patients were less likely to undergo radiation treatment than patients who tested negative for BRCA (51% < 82%). Finally, BRCA-positive patients underwent chemotherapy at a slightly higher rate than BRCA-negative patients (38% > 30%). This data suggests breast cancer patients who tested positive for the BRCA mutation and their physicians are more aggressive in preventative measures such as mastectomies and treatments such as chemotherapy, but less aggressive in treatment measures such as radiation (perhaps because patients are planning to undergo mastectomies in the future or fear the effects of radiation). As well, BRCA-positive patients having an increased likelihood of developing breast cancer multiple times may explain the vastly higher rate of double-mastectomy.
Positive and Negative Considerations
Even if you have not currently been diagnosed with breast cancer, being aware of the presence of a harmful genetic mutation can affect how you live and thus affect your chances of developing cancer later in life. If you do test positive for harmful genetic mutation, you can make lifestyle changes such as being more physically active and lessening your alcohol consumption. You could also opt for preventative surgery, such as a double-mastectomy, or chemoprevention medication to lessen your risk.
If the results of your genetic testing are negative, this can be a great relief to many. Of course, a negative result doesn’t erase the possibility of developing breast cancer, but it can be comforting to know you aren’t any more likely than someone else.
On the other hand, some individuals aren’t adequately equipped to handle the mental and emotional stress of a positive result. If this is the case, you might opt out of genetic testing or seek professional help with coping with your results, whatever they might entail.
Genetic testing can be expensive, ranging from three-hundred to five thousand dollars depending on the facility you choose. There are insurance providers who will cover the cost if the testing is medically necessary. Check with your insurance provider and verify their guidelines before ordering tests.
If you fall under the scope of individuals who should be tested for genetic mutations—the sooner you seek answers, the better. We offer genetic testing and family history evaluations here at The Breast Place. You’ll meet with one of our qualified, highly-trained medical professionals to determine your inherent risk and be tested for a panel of harmful genetic mutations. Take your future into your own hands and schedule a consultation today. We’ll assist you with determining the best course of action following your test results. The Breast Place also offers several breast imaging services, including: mammograms, ultrasounds, and MRIs. We’re here to help!