What is the BRCA gene? A Simple Explanation.
The BRCA gene has had a large impact on our lives since its discovery and has been found to contribute to many different diseases and health concerns. The BRCA1 and BRCA2 genes are associated with hereditary breast and ovarian cancer in women, and men can also get this cancer. As someone who regularly meets and treats people who have had breast cancer, I wanted to share more information about the BRCA gene and raise awareness.
WARNING : The following post shows images of areola and nipple tattoos on post mastectomy patients.
So what exactly is the breast cancer BRCA gene?
The BRCA gene gets it’s name from the first two letters of the words “BReast” and “CAncer”. There are 2 different variations of the BRCA gene, BRCA1 and BRCA2 and both of these genes are known to influence an individuals probablility of developing breast cancer.
It’s a complicated topic, but if you want a simple explanation, the BRCA gene are proteins that control cell growth and the maintenance of healthy cells. They’re also involved in repairing damaged DNA in cells. If you inherit defective copies of the gene from your parents, it can lead to early-onset, aggressive breast cancer.
Here’s a simple explanation for what the BRCA gene really means in simple terms for those who want to know :
1. Overview of breast cancer risk
2. The BRCA gene mutation
3. The different types of BRCA gene mutations
4. Other risk factors
5. Early detection through testing
6. Preventing breast cancer through lifestyle changes
7. BRCA gene association with breast, ovarian and pancreatic cancer
8. Elective mastectomy
9. Reconstruction
10. Nipple Reconstruction and Areola/3D Nipple Tattooing
1. Overview of breast cancer risk
1 in 8 women will be diagnosed with breast cancer in her lifetime. That statistic is huge. There is no definitive answer as to why women get breast cancer and most women that have it or have had it will never be able to pinpoint the exact cause of their illness. What is known, is that, like all cancers, breast cancer is always caused by damage to a cell’s DNA.
Whilst we don’t have any definitive answers, there are certain risk factors that are known. Breast cancer risk begins in adolescence when the ovaries begin to produce estrogen at a high level, which promotes the growth of the mammary glands. After menopause, when production of estrogen declines, the breasts stop growing and shrink. This explains why the most common breast cancer risk factors are age and hormonal status.
Hormonal status is the most important factor in determining breast cancer risk. If you have a very high level of estrogen in your system, it can increase the risk of developing breast cancer. This can happen if you take birth control pills or if you’re taking hormone replacement therapy.
Other risk factors include being born with certain genes and having a family history of breast cancer.
2. The BRCA gene mutation
This is a simple fact that most women already know. If your family has a history of breast cancer, there’s a 50% chance that you carry the BRCA gene mutation for the disease. But if you don’t have a family history, there’s still a 25% risk of carrying the BRCA gene mutation. This means that even if you test negative, you still need to take measures to decrease the risk of developing breast cancer. These measures include getting regular mammograms, having genetic testing to rule out the BRCA gene mutation, and taking the medications tamoxifen and raloxifene.
People with the BRCA gene mutation are known to have a higher risk of developing breast cancer. While women with the mutation may or may not already have had a family history of breast cancer, the decision to test for the gene should be based on whether you have a personal history of breast cancer or a family history of breast cancer. The decision to get tested should also depend on your level of risk and age.
Nowadays, it’s fairly common for women to undergo a genetic test for the BRCA gene. If your mother or sister has had breast cancer, you may want to consider getting tested for the BRCA gene. The genetic test, referred to as a BRCA gene test or just a BRCA test, can help determine whether you are at increased risk of developing breast cancer. If you are found to be positive for the BRCA gene, there are ways to reduce your risk of developing the disease.
3. The different types of BRCA gene mutations
The BRCA gene is one of the genes that increases your risk of developing breast cancer. A BRCA gene mutation means that you are at a much higher risk of developing breast cancer than women who don’t have a BRCA mutation. For example, if you have a BRCA gene mutation, there is an 87% chance that you will develop breast cancer in your lifetime. The chances of getting breast cancer in a woman without a BRCA mutation is 13%. This means that you have a 5.7-fold increased risk of developing breast cancer if you do have a BRCA gene mutation.
BRCA stands for “breast cancer 1/2.” There are two main types of BRCA gene mutations: mutations in BRCA1 and BRCA2. The majority of BRCA gene mutations occur in BRCA1. The vast majority of people who carry a BRCA gene mutation are at extremely high risk for breast cancer.
These days, the most well-known gene associated with hereditary breast cancer is the one that causes the BRCA1 gene. However, the BRCA2 gene is the one linked to the greatest risk of developing hereditary breast cancer. If you carry the BRCA1 gene, you have a 65% chance of developing breast cancer by age 70. If you carry the BRCA2 gene, you have a 40% chance of developing breast cancer.
4. Other risk factors
Breast cancer is the most common cancer in women and the second leading cause of cancer deaths among women worldwide. But while the risk of developing breast cancer can be reduced with early detection, there is no cure for it yet.
Other risk factors other than the BRCA gene include age, race, diet, alcohol intake, smoking, body weight, physical activity and reproductive factors (i.e., number of pregnancies and menopausal status). Women who experience any of these risk factors should be vigilant about screening and follow up. A healthy lifestyle includes being physically active, eating a healthy diet, and avoiding tobacco and alcohol.
Age
There is no definite age when a person becomes more likely to develop breast cancer but if you’re a woman over age 30, your risk for developing breast cancer increases every year. According to the American Cancer Society, the lifetime risk of a woman of developing breast cancer is 1 in 8, while the risk of a man is 1 in 12.
Race
Race can play a factor in the probablility of an individual developing breast cancer. It’s true that white women have a slightly higher chance of developing breast cancer than Black women. But Black women have a higher chance of having more advanced-stage breast cancer at a younger age, which is when breast cancer is usually most deadly.
Alcohol/Smoking
Your lifestyle choices can also affect your risk of developing breast cancer.
Drinking too much alcohol can increase your chance of developing breast cancer, so you should limit your intake.
Smoking also has an impact on your health and studies have shown that women who smoke have an increased chance of developing breast cancer.
Diet/Weight/Physical Activity
Other major lifestyle choices that can increase the chances of women getting this cancer include obesity or being physically inactive. Making healthier lifestyle choices will reduce your chances of getting breast cancer. Obesity can increase your risk of getting breast cancer.
The more overweight and obese you are, the higher your risk of developing breast cancer. There is evidence that breast cancer occurs more often in obese people than in normal weight people and obesity is also linked to a higher risk of developing postmenopausal breast cancer.
Reproductive Factors
Reproductive factors such as the number of pregnancies and menopause can also impact the risk of a woman developing breast cancer.
There are many possible reasons for this. In general, the higher a woman’s level of oestrogen, the greater her risk for developing breast cancer. .
During pregnacy, oestrogen levels are increased and after menopause, oestrogen levels decrease.
5. Early detection through testing
People have a better chance of surviving breast cancer if they get tested early. However, if your risk is high or you’re over the age of 35, the National Cancer Institute recommends that you get a genetic test for the genes BRCA1 and 2.
This is important because women who carry a BRCA gene mutation may not realise that they are at increased risk. For example, if your mother or sister had breast cancer and the tumour carried a certain gene mutation, it is more likely that you have the same mutation.
Breast cancer screening generally involves the use of two main techniques: self-exams and mammograms.
Self-exams are typically performed by a woman herself. This is the easiest and least expensive way to screen for breast cancer.
Mammograms require a doctor to perform the examination. The doctor examines the breast area by placing the device over the breast and moving it around to detect any changes.
Regular screening and check ups are one way to monitor any changes for those who test positive for the BRCA gene mutations.
6. Preventing breast cancer through lifestyle changes
Breast cancer is the most common cancer diagnosed among women worldwide. This is why early detection is key. Fortunately, many women can avoid getting breast cancer altogether through regular self-examinations and mammograms. However, there are also some lifestyle changes that can help prevent the disease and save lives.
It’s no secret that women with certain risk factors, such as being overweight or having a family history of breast cancer, are at a higher risk of developing the disease. But just because women who are predisposed to developing breast cancer are more likely to develop the disease than those without the predisposing factors doesn’t mean they will necessarily develop the disease.
Some common lifestyle choices that decrease risk include quitting smoking, maintaining a healthy weight, limiting alcohol intake, and eating a diet rich in fruits, vegetables, whole grains, and fiber. These lifestyle changes can go a long way in helping us live longer.
7. BRCA gene association with breast, ovarian and pancreatic cancer
As researchers comb through the BRCA genes, it appears there may be a link between having these genes and a number of cancers, including breast, ovarian, pancreatic and prostate.
While it’s still early days in the discovery process, experts say there is enough evidence to encourage women to find out if they have the genes and discuss the potential risk with their doctors. However, the NHS has advised those who test positive to seek further genetic testing to see if there are more genes to discover or family members who have already been diagnosed with the disease.
8. Elective Mastectomy
A mastectomy is a surgical operation where the surgeon removes the entire breast, which includes the breast tissue and the skin. Mastectomies are used to treat breast cancer in both women and men. The operation usually takes less than 90 minutes, and most patients are able to go home the following day. It’s common to be very sore after the operation. Most patients can return to work after 3 weeks.
A preventive or elective mastectomy is a surgery that removes all of the breast tissue. This surgery is done to prevent the spread of cancerous cells in the breast and to reduce the chances of developing cancer in the future. Preventive mastectomies are also called elective mastectomies. Breast cancers usually develop over time. Some women find out that they have breast cancer after it has been present for a long period of time. Women who are at high risk of developing breast cancer such as those who test positive for the BRCA gene mutations may consider this surgery.
This is a common breast cancer risk-reduction strategy for women with a family history of the disease. This can eliminate the possibility of developing breast cancer for the woman’s lifetime. In addition to reducing the risk of developing breast cancer, it also reduces the risk of developing ovarian cancer.
9. Breast Reconstruction
Breast reconstruction can be challenging. Breast reconstruction is usually performed in conjunction with another operation, such as a mastectomy and can be done at the same time as the mastectomy or at a later date.
In a nutshell, there are two main types of reconstruction: implants and reconstructions using your own tissue.
A reconstruction with implants is often considered the simplest and most effective way to restore a woman’s breasts. Implants are inserted into the chest wall, the chest muscle, or the skin. They can be augmented by adding more tissue if necessary, and come in various sizes and shapes. The implant can last between 10 and 20 years.
Reconstruction with your own tissue is called autologous or “flap” reconstruction. The tissue, which is known as a “flap”, is usually harvested from the abdomen, back, buttocks, or inner thighs to provide the additional skin required to create the reconstructed breast. This method is the most permanent solution as the surgery only needs to be performed once as opposed to implants whoch will need to be replaced aftet 10-20 years.
Reconstruction can be done at the same time as the mastectomy (immediate reconstruction) or at a later date (delayed reconstruction). Some opt for a staged method which means that some of the reconstruction is done immeditely and some at a later date (known as immediate-delayed reconstruction).
10. Nipple Reconstruction and Areola/3D Nipple Tattooing
Patients that have had mastectomy may be left without nipples as they are often removed with the rest of the breast tissue, however sometimes nipples can be preserved, this is usually possible when the risk of developing cancer is very low. Patients that have had elective mastectomy will often opt to remove the nipple along with the breast tissue to eradicate the risk of developing cancer.
Nipple reconstruction surgery can be performed during the breast reconstruction but more often than not, is done roughly 4-6 months after the breast reconstruction as an outpatient appointment. Nipple reconstruction usually involves a skin flap known as a “star flap” which is folded ito the shape of a nipple. This method is a good option as it provides a protrusion that looks more like a real nipple than a flat surface.
The word “areola” is Latin for “ring around the nipple” and refers to the pink or brown pigmented area surrounding the nipple, a.k.a. the breast. With or without a nipple reconstruction, when a breast has been reconstructed the nipple and areola area are left colourless. Some patients will opt to have this area re pigmented by visiting someone like me, who offers areola and 3D nipple tattooing. Many patients feel like this is the “cherry on the cake” or the final step in their recovery.
If a reconstruction has been done with a nipple reconstruction, then this will initially create a protrusion that looks more like a real nipple, however this protrusion will gradually become flatter over time. Having the areola repigmented and adding light and shade around the nipple reconstruction can make this look even more realistic. Whilst areola tattooing is available on the NHS the waiting list is long and the pigments used fade which means that the tattoo has to be redone every 2/3 years.
Often, the nipple reconstruction is delayed for a period of 4-6 months after the breast reconstruction surgery and for this reason, many patients do not opt to have a nipple reconstruction. Perhaps they don’t feel it necessary or perhaps they feel that they don’t want to have any more surgery. Patients that have had breast reconstruction wihout a nipple star flap, can opt for a 3D nipple tattoo.
3D Nipple Tattooing, which is also known as Areola Tattooing, Areola Reconstruction and Areola Restoration is an advanced medical tattoo using medical grade pigments and specialist techniques and is designed to give the illusion of a nipple and areola. Even on a flat surface, where there is no surgically created nipple with the use of expert light and shade techniques, I can give the illusion of a protruding nipple.
3D Nipple Tattoo on flat skin by Sara Duane (for BRCA gene mastectomy patient)
Before/After : 3D Nipple Tattoo on flat skin by Sara Duane (for BRCA gene mastectomy patient)
BRCA genes are highly penetrant breast cancer genes that increase a woman’s lifetime risk of developing breast cancer to as high as 80 percent. This means that if a BRCA gene mutation exists in a patient’s family history, she has a high chance of developing breast cancer.
When a woman decides to undergo genetic testing for BRCA1 and BRCA2 mutations, her doctors will take a sample of her blood to find out if she has any of these mutations. These mutations are usually passed from parent to child and if a person is found to have one of these mutations, she will have an increased risk of developing breast and ovarian cancer in her lifetime.
Some women may develop breast cancer or ovarian cancer at an early age. Others can live for decades without developing cancer. If you are considering genetic testing, discuss with your doctor whether he/she wants to order the test, especially if you have family members who have already had breast or ovarian cancer. Your doctor may recommend that you wait until after having children or until the age of 50 to undergo genetic testing.
Book a Consultation Today
If you've had a mastectomy and want to know more about my Areola and 3D Nipple Tattooing treatments, book a consultation to see how I can help you.