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What is the BRCA Gene?

A BRCA gene is a tumor suppressor gene that promotes the normal development of DNA, the structures that govern how proteins are made. People with mutations in their BRCA genes, (BRCA1 and BRCA2) are at an increased risk of developing several types of cancer, including breast cancer. According to the National Institutes of Health, about 45 to 69% of women with a BRCA2 mutation and 55 to 72% of women with a BRCA1 mutation will have breast cancer by the time they reach 80 years of age. Luckily, women at risk can gain greater insight and control over their health needs by taking preventative measures and undergoing genetic testing.

If you or your family has a history of breast cancer, staying informed about the latest research is vital to your long-term well-being. When caught early, breast cancer is highly treatable, and many patients go on to live fulfilling lives.

Dr. Michael Howard is a board-certified plastic surgeon who performs breast reconstruction surgeries, like the DIEP flap, for women who have undergone cancer treatments. For nearly 20 years, Dr. Howard has transformed the confidence of his patients by restoring their sense of body confidence and femininity.

If you had a mastectomy or other cancer procedure without reconstruction, consider speaking about your cosmetic concerns with Dr. Howard. Call (224) 271-4250 to set up an appointment at his office location in Chicago, Glenview, or Lake Forest, Illinois.

About the BRCA Genes

All human DNA is stored on chromosomes within each cell. We have 23 pairs of chromosomes which contain hundreds of different genes determining many of our physical traits and biology. Some of these genes are recessive, meaning that we carry them, but they do not physically manifest. Still, every aspect of our body is either influenced or determined by a specific gene or a set of genes. Though the BRCA1 and BRCA2 genes are just two of the 20,000 identifiable genes of the human body, they can impact our health greatly.

BRCA is an acronym taken from the letters in “breast cancer”, but it is also linked to the development of other cancers, such as ovarian, pancreatic, and prostate cancer, just to name a few. When these genes develop normally, they facilitate quality DNA synthesis, allowing the body to regenerate functional tissues and impede cancer cells. With abnormalities- called mutations- these genes cannot regulate the production of these cells, and cancer can develop.

How Often Do BRCA Mutations Occur?

According to the Centers for Disease Control and Prevention, around 1 in every 500 women has a BRCA mutation in the United States, which is relatively rare. Certain populations are more likely to develop breast cancer due to the presence of one of these mutations, such as women of Ashkenazi Jewish descent, women under the age of 30, and men. Overall, BRCA mutations account for about 5 to 10% of all breast cancer cases. Knowing your family history of cancer is just as important- if not more- than knowing your personal risk factors. Research finds that BRCA1 mutations are identifiable in about 40% of families at a higher risk of breast and ovarian cancers, while BRCA2 are identifiable within 20% of families at high risk. (1)

What is BRCA Genetic Testing?

Though genetic testing for BRCA gene mutations can be extremely helpful for you to understand your risk, this type of screening is not for everyone. Physicians typically consider several factors to determine if it is a necessary course of action. If you have a personal experience with breast cancer or have one or more of the following, you should ask your provider about testing:

  • You developed breast cancer before the age of 50
  • You developed a triple negative tumor and were 60 years or younger at the time of your diagnosis
  • You developed breast cancer and are of Ashkenazi Jewish ancestry
  • You developed two or more types of breast cancer
  • You have a parent, sibling, or child that was diagnosed before the age of 50
  • You have two family members on the same side of the family with either breast cancer, pancreatic cancer, or both
  • You or a family member has developed ovarian cancer, fallopian cancer, or primary peritoneal cancer.
  • You or a family member has experienced male breast cancer
  • There is a known person within the family that has a BRCA mutation/s. (1)

No matter if you are a breast cancer survivor or are in the process of receiving treatment, genetic testing can be a valuable tool for your family. If you are a known carrier of a BRCA mutation, your provider may recommend that immediate family members undergo genetic testing as well. If you have not been diagnosed with cancer, this simple blood test can be a great step for the good of your future health.

Other Gene Mutations

In addition to BRCA mutations, other gene abnormalities can also increase the risk of developing breast cancer. These other genes include: TP53, CDH1, STK11, PALB2, ATM, PTEN, and CHEK2. The BRCA genes still have one of the highest associations, so physicians typically focus on these when assessing risk.

Testing Positive for a BRCA Mutation

Preventative Surgery

If you test positive for a BRCA mutation after genetic testing, this does not mean that you will positively develop breast cancer. However, with this knowledge, you should consider taking more preventative measures and talking to your provider about how to move forward with your medical care. You may want to undergo a preventative mastectomy to almost eliminate the possibility of this type of cancer. Various types of preventative procedures allow you to undergo breast reconstruction at a later time and preserve the nipples/areolas. Another procedure- called the preventative salpingo-oophorectomy- involves removing the ovaries and fallopian tubes. This surgery has been shown to decrease ovarian cancer risk by 96% and breast cancer risk by 50%. (2) Though this surgery may not work for you if you still want biological children, it can be an effective option if you are an older woman, are child-free, or are done with having children.

Early Detection Plans

If you carry a BRCA mutation, you may not want to commit to surgery, and that is understandable. Preventative procedures may not be ideal for your situation, but you should still speak with your provider about an alternative detection plan. Studies suggest that women with a BRCA mutation should begin annual breast examinations and MRI screenings at age 25 and annual mammography/sonography tests at age 35. (3) This more aggressive approach to identifying breast cancer greatly improves survival rates and allows oncologists to detect and treat cancers at earlier stages.

Breast Cancer Treatment Plans

If you develop breast cancer due to a BRCA mutation or a known mutation in the family, your provider will be able to tailor your treatment plan to treat your specific cancer. BRCA1 mutations are more likely to cause triple-negative breast cancers, a type that does not respond to hormone therapy. However, it responds much better to chemotherapy. Oncologists are knowledgeable about various types of medications that are more effective for those with BRCA mutations. If you have a mutation and develop cancer in just one breast, your surgeon will most likely recommend a double mastectomy to further reduce the risk of recurrence.

What Else Can I Do To Prevent Breast Cancer?

Your genetic makeup is just one aspect of your health that affects cancer risk. Diet, exercise routine, and lifestyle are all well within your control. By paying attention to these other elements, you can still significantly reduce the likelihood that you will develop breast cancer. Here are some recommendations from the American Cancer Society:

  • Stay at a healthy weight
  • Eat a diet rich in fruits and vegetables that limits processed red meat and sugary food intake.
  • Get at least 2 and a half hours of moderate exercise each week (this does not have to be at the gym; you can incorporate everyday activities like, for example, walking your dog, washing your car, or biking)
  • Limit or avoid alcohol
  • Avoid hormone therapy after menopause

Personal Consultation

If you have already experienced breast cancer and underwent a mastectomy or lumpectomy procedure, there is no need for you to live life feeling incomplete. Dr. Michael Howard can help you find the solution for you to feel amazing in your body once again, even after the struggles of cancer treatment. No matter your individual body type, shape, or aesthetic desire, Dr. Howard can work with you to provide personalized results that can last a lifetime. He performs the following procedures:

During your consultation with Dr. Howard, he will ask you about the nature of your cancer treatment and the cosmetic results you would like to attain. A breast implant reconstruction can dramatically improve breast profile, but this will require a follow-up revision 10 to 20 years after the first procedure. DIEP Flap, on the other hand, utilizes tissue and fat from the abdomen, but this will restore the breasts permanently.

During this first appointment, he will also take into account your overall health and medical history before coming up with a surgical plan. After discussing these factors, he will outline what you would need to do to prepare, how the procedure itself will go, and your recovery. He will be available to answer any questions you may have, so please come ready and prepared so that you have the most informative session possible.

To get started today, visit Dr. Howard at his locations in Chicago, Lake Forest, or Glenview or call (224) 271-4250. A member of Dr. Howard’s staff will assist you in finding an appointment date and time that works with your schedule. If you would like to learn more before committing to a consultation, feel free to browse through our blog posts.

Cost of a Breast Reconstruction in Chicago

Breast reconstructions are almost always covered by medical insurance. This coverage also includes any possible complications with the procedure, implant replacement, and more. Dr. Howard will address any further questions you may have concerning the total cost during the consultation.

References

  1. Casaubon JT, Kashyap S, Regan JP. BRCA 1 and BRCA2 Mutations. PubMed. Published 2021. https://pubmed.ncbi.nlm.nih.gov/29262038/
  2. Riis ML. Management of patients with BRCA mutation from the point of view of a breast surgeon. Annals of Medicine and Surgery. 2021;65:102311. doi:https://doi.org/10.1016/j.amsu.2021.102311
  3. Bernstein-Molho R, Kaufman B, Ben David MA, et al. Breast cancer surveillance for BRCA1/2 mutation carriers – is “early detection” early enough?. The Breast. 2020;49:81-86. doi:https://doi.org/10.1016/j.breast.2019.10.012