- What genes contribute to breast cancer risk?
- What is the risk if you have a faulty breast cancer gene?
- Are all women routinely tested for faulty genes?
- Will I need a mastectomy if I am found to have a faulty gene?
- What happens if I decide to have a preventative mastectomy?
- What is breast reconstruction?
- Will the new breasts look and feel the same as before?
Writing in the New York Times, actress Angelina Jolie has announced that she has recently undergone a double mastectomy (where both breasts are surgically removed) followed by breast reconstruction surgery.
She writes that this is because genetic testing revealed she had a 87% chance of developing breast cancer in later life, as well as a 50% risk of ovarian cancer. This means she took a decision to have ‘preventative surgery’.
Jolie explained: "I decided to be proactive and to minimise the risk as much as I could. I made a decision to have a preventative double mastectomy.
"Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action."
What genes contribute to breast cancer risk?
A number of genes, associated with breast cancer, have been identified. People often talk about 'having' these genes, which include BRCA1, BRCA2, TP53 or PTEN. In fact, every women has these genes, but if a fault (mutation) develops in one of the genes then it can increase the risk of a women developing breast cancer.
It is estimated that around 1 in 500 women have a high-risk mutation in one of the genes associated with breast cancer. However, having this high risk mutation does not mean that a woman will definitely develop breast cancer.
What is the risk if you have a faulty breast cancer gene?
If you have a faulty gene, it doesn't mean you'll definitely develop breast cancer, but you are at a higher risk.
Having a fault in one of the breast cancer genes raises the risk of developing breast cancer to between 50% and 85%. In other words, out of every 100 women with a faulty gene, between 50 and 85 of them will develop breast cancer in their lifetime.
Are all women routinely tested for faulty genes?
No. Testing, provided by the NHS, is usually only offered to women thought to be at high risk of having a faulty gene. These include:
- women with a strong family history of breast cancer where a living family member with breast or ovarian cancer is available for testing
- women with a family history of several relatives developing early-onset breast cancer (cancer that develops before the age of 50), as this is often associated with having a faulty gene
Gene testing is also available from private clinics. The tests can be expensive, with available prices quoted on the internet ranging from around £2,000 to £3,000. The Pink Lotus Breast Center, where Angelina Jolie had her treatment, states that it screens for BRCA gene mutations in women without cancer who:
- have two or more family members with breast cancer, one under the age of 50
- have a previously identified BRCA mutation in the family at any age
- are of Ashkenazi Jewish descent with a family history of breast or ovarian cancer
Will I need a mastectomy if I am found to have a faulty gene?
No. There is a range of treatment options available to you.
First, there is the option of what is known as active monitoring. This is where you receive annual screening in the form of mammograms or MRI scans (or sometimes both) to monitor the state of your breast tissue.
Changes in your lifestyle can also reduce your individual breast cancer risk. These include taking plenty of exercise and maintaining a healthy diet.
There is also the option of waiting to see if breast cancer develops, and if it does it can be treated using conventional methods as with other breast cancers. Breast cancer cure rates are good and continue to improve. The chance of making a full recovery, especially if the cancer is detected early, are relatively high compared with other forms of cancer.
Ultimately, there is no right or wrong answer about what you should do. Your care team can provide advice that will allow you to make an informed decision about your treatment. But the decision is one only you can make.
What happens if I decide to have a preventative mastectomy?
As much breast tissue as possible is removed through a single cut horizontally or diagonally across the chest under general anaesthetic. It’s a physically and emotionally draining operation. Expect some pain and fatigue afterwards and to spend one or two nights in hospital. It generally takes three to six weeks to recover fully.
What is breast reconstruction?
Basically, new breasts are formed from skin and muscle from your back, stomach or buttocks, or by using implants. It’s often possible to have reconstruction straight away – in the same operation as the mastectomy – though you can have it done later. Angelina Jolie had her breasts reconstructed with implants nine weeks after her double mastectomy. If your nipples have to be removed during the mastectomy, then they can be reconstructed with skin from another part of your body, and the areola created by tattooing.
Will the new breasts look and feel the same as before?
Reconstructed breasts won’t feel the same to you as your real ones did – the nerves have been cut, so they’ll always be numb, and there will be noticeable scars, but women generally report being happy with the cosmetic outcome.