The implications of Genetic Testing

Feb 15, 2022
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.

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. 

Gene Mutations

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. 

The Aftermath

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!