What is BRCA Genetic Testing and Why is it Becoming so Popular?

BRCA stands for Breast Cancer susceptibility gene. There are two BRCA genes, BRCA1 and BRCA2, which work as tumor suppressors. Researchers have found that there are 1,800 different types of BRCA mutations. Some of these mutations are harmful and may lead to cancer, while others show no impact.

A woman with a BRCA gene mutation is seven times more likely to get breast cancer. Further, women with a BRCA gene mutation are 30 times more likely to get ovarian cancer before age 70. However, with the BRCA test, women can treatment to decrease these chances.

The BRCA gene test is a blood test that uses DNA analysis to identify if any mutations have occurred in either one of the two breast cancer susceptibility genes. If the test determines that you do have positive risk factors, doctors can help you understand your cancer risks.

All the cells in your body have little blueprints for your body called genes. These genes contain information that determines everything from the color of your eyes to the texture of your hair. They also contain instructional information that determines how the cells in your body grow, divide and die. Gene information is inherited from both your mother and father, and you pass the information on to your children. It is important to note that when a gene mutation occurs, it may or may not lead to health problems. 

What is BRCA1?

The BRCA1 gene provides instructions for making a protein in the nucleus of a cell that behaves as a tumor suppressor. To do so, the BRCA1 gene interacts with several other proteins in the cell, including other tumor suppressors and proteins that regulate cell division.

What does the BRCA1 gene do?

Tumor suppressor proteins prevent rapid, uncontrolled growth and division of cells. This protein is part of the process that repairs damaged DNA. Through helping with DNA repair, the BRCA1 protein is critical to the stability of maintaining a cell’s genetic information.

In the cell nucleus, BRCA1 interacts with several other proteins to mend breaks in DNA. These breaks may be natural or the result of medical radiation or other environmental exposures. They may also occur when chromosomes exchange genetic material in preparation for cell division.

In addition to these benefits, the BRCA1 gene also regulates the activity of other genes. In fact, it is essential to embryonic development.

What happens if BRCA1 mutates?

Both women and men are at an increased risk of breast cancer, and several other types of cancer, if the BRCA1 gene mutations. Researchers have identified more than 1,800 mutations in the BRCA1 gene. When these mutations occur, they are present in every cell in the body and can be passed from one generation to the next. This is why certain cancers are considered hereditary. However, it is important to note that not every person who inherits a BRCA1 gene mutation will develop cancer. There are several other genetic, environmental and lifestyle factors also contribute to a person’s cancer risk.

When a BRCA1 gene mutation occurs, it can lead to an abnormally short version of the BRCA1 protein. In addition, mutations can prevent any protein from being made from a single copy of the gene. When this occurs, less BRCA1 protein is available to help repair damaged DNA or correct mutations that occur in other genes.

An accumulation of these defects can trigger cells to grow and divide uncontrollably which may lead to the formation of tumors.

What is BRCA2?

The BRCA2 gene also functions as a tumor suppressor in ways similar to the BRCA1 gene.  However, in addition to repairing broken DNA and preventing cells from growing and dividing too quickly or in an uncontrolled way, BRCA2 also plays a critical role in regulating cytokinesis. In short, cytokinesis is a step in the physical process of cell division that occurs when the fluid surrounding the nucleus (cytoplasm) divides to form two separate cells.

Researches are continuing to investigate BRCA2’s potential other activities.

What happens if BRCA2 mutates?

When BRCA2 mutates, it leads to the production of small, nonfunctional copies of the BRCA2 cells. This results in less protein available to repair damaged DNA.

Male genetic testing

Many people consider breast cancer a woman’s disease. However, approximately 480 men will die in 2018 from breast cancer and about 2,550 of men will receive an invasive breast cancer diagnosis. Men should consider BRCA genetic testing as well. If a man tests positive for a mutated BRCA1 or BRCA2 gene, it can lead to a future breast diagnosis and there is a 50% chance his children will carry the gene.

Female children of male carriers have a risk of between 40% and 80% of eventually developing breast cancer.

In addition, men with a genetic predisposition are at an increased risk of getting prostate cancer at a young age.

What are the benefits of knowing your BRCA1/2 gene mutation risks?

Although less than 1 in every 500 women in the United States has either a BRCA1 or BRCA2 gene mutation, getting the genetic test to identify your susceptibility to breast cancer is a good idea. If you have a positive mutation result, your doctor can help you begin taking steps to lower your risks of developing breast or ovarian cancer.

For example, your doctor may recommend:

• Hormonal therapy medicine. Your doctor may prescribe you tamoxifen, Evista (chemical name: raloxifene) or Aromasin (chemical exemestane). These medications could reduce your risk of developing breast or ovarian cancer.
• More frequent examinations and screening. Your breast cancer survival rates increase tremendously if doctors catch the disease early. Because of this, if you receive a positive BRCA gene mutation result, your doctor may recommend clinical exams and breast cancer screening every six months instead of every year. They may also ask for digital mammography and or MRIs rather than just traditional mammograms.

In addition, if you do develop cancer, your doctor will also be able to make better treatment decisions that take your genetic information into account.

You will also be able to make more informed decisions about your health. Knowing your risks may prompt you and your family member to make lifestyle changes, family planning and other decision that could help lower cancer risks. You may also consider preventative surgical removal of your breast, ovaries or both before cancer has an opportunity to form.

Should I have the breast cancer genetic testing done?

Not everyone is at risk for the BCRA1/2 genetic mutations. Know: BCRA provides an online assessment to determine whether or not you have mutation risks. But the only real way to confirm BCRA1/2 mutations is through undergoing the genetic test. In fact, gene mutations are incredibly rare. In the U.S. about 1 in 400 people in the general population have BRCA mutations. However, both men and women with Ashkenazi Jewish heritage are at a significantly increased risk of having BRCA1/2 genetic mutations. About 1 in 40 Ashkenazi Jewish men and women have a BRCA1/2 mutation. And approximately 10% of Ashkenazi Jewish women diagnosed with breast cancer in the U.S. carry the gene mutation.

In addition to considering familial heritage, you should consider getting the BCRA genetic testing done if you:

• Were diagnosed with breast cancer at a young age (premenopausal or younger than 50).
• Have a personal history of triple-negative breast cancer diagnosed at 60 or younger.
• Were diagnosed with breast cancer in both breasts.
• Know of one or more relatives diagnosed with breast cancer at age 50 or younger, one relative with ovarian cancer or two or more relatives with breast or pancreatic cancer.
• Have a male relative with breast cancer.
• Are aware of a family member who has both breast and ovarian cancer.
• Have a relative with the BRCA1 or BRCA2 gene mutation.
• Are Ashkenazi (Eastern European) Jewish ancestry, with a close relative who has breast, ovarian or pancreatic at any age.

What does the BRCA genetic test involve?

The BRCA1/2 genetic tests are usually done by a blood or saliva sample taken by your doctor’s office. Your doctor’s office will then send the sample to a commercial laboratory or research testing facility. During the test, laboratories will separate the submitted genes from the rest of the DNA and scan for abnormalities. These facilities will typically report results to patients within two to four weeks.

The Carlson Law Firm is Here for You

Finding out you have a BRCA gene mutation may be scary. However, it may be a critical component in proving medical negligence if you’ve received a misdiagnosis or delayed diagnosis. For example, if the staff responsible for treating you knew of your increased chances of developing cancer but did not recommend any risk lowering medical treatment, you may be entitled to compensation. We recognize that receiving any kind of cancer diagnosis is scary, however, you may be able to hold medical staff or hospitals responsible if you had to undergo more radical cancer treatments because of medical staff’s failure to properly and promptly assess your disease.

Contact The Carlson Law Firm to schedule a free, no-obligation consultation with a qualified Medical Malpractice Attorney.