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Breakthrough for thousands of women carrying 'Angelina Jolie' cancer genes as scientists find a way to rev up their immune system to stop them needing mastectomies

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A drug breakthrough could help women with the Angelina Jolie cancer gene avoid surgery.

Currently, women who carry a BRCA gene mutation are at higher risk of breast and ovarian cancer.

Many opt for preventative treatment options such as a mastectomy.

But new research indicates that giving drugs usually administered in the late stages of breast cancer to healthy people carrying the mutated BRCA genes could prevent them from developing the disease.

In 2013, Hollywood actress Angelina Jolie revealed she had made the decision to undergo a double mastectomy after testing positive for mutations in the BRCA1 gene

In 2013, Hollywood actress Angelina Jolie revealed she had made the decision to undergo a double mastectomy after testing positive for mutations in the BRCA1 gene

University of Cambridge academics discovered immune cells in the breast tissue of healthy women carrying faulty BRCA1 or BRCA2 genes showed signs of 'exhaustion'.

This malfunction – usually found in late-stage tumours – suggests the immune cells cannot clear damaged cells, which eventually lead to cancer.

Senior author Professor Walid Khaled said immunotherapy drugs which overcome this block in function already exist.

He said: 'We're very excited about this discovery because it opens up potential for a preventative treatment other than surgery for carriers of BRCA breast cancer gene mutations.

'Drugs already exist that can overcome this block in immune cell function but so far they've only been approved for late-stage disease.'

Immunotherapy helps the immune system recognise and fight cancer. It can be administered on its own or alongside other treatments.

'No-one has really considered using them in a preventative way before,' Professor Khaled added.

'However, these drugs do have serious side effects and we are working now on testing these in pre-clinical models to determine a safe dosage before moving to human studies.'

About one in every 400 people carry the faulty BRCA genes.

According to the NHS out of 100 women with a BRCA1 gene mutation, between 65 and 85 will develop breast cancer in their lifetime. Between 40 and 63 will develop ovarian cancer.

Out of 100 women with the BRCA2 mutation, between 40 and 85 will develop breast cancer at some point in their life.

In some cases, patients with the faulty genes may be offered risk-reducing surgery, which removes tissue such as breasts or ovaries, that could become cancerous.

In 2013, Hollywood actress Angelina Jolie revealed she had made the decision to undergo a double mastectomy after testing positive for mutations in the BRCA1 gene.

Cancer Research UK has granted the Cambridge team a Biology to Prevention Award to test the method in mice and will closely monitor side effects and dosage.

After this, a pilot clinical trial could be carried out in women with BRCA gene mutations.

Professor Khaled added: 'The best way to prevent breast cancer is to really understand how it develops in the first place. Then we can identify these early changes and intervene.

'Late-stage breast cancer tends to be very unpredictable and hard to manage. 

'As we make better and better drugs, the tumours just seem to find a way around it.'

Dr Simon Vincent, director of research, support and influencing at Breast Cancer Now, said: 'The best weapon we could have against breast cancer is the ability to stop it occurring in the first place.

'This research, which used tissue samples from Breast Cancer Now's Tissue Bank, suggests that we could prevent some women with altered genes from developing the disease by using drugs currently approved for treatment in the late stages of breast cancer.

'While further research is needed and clinical trials in humans are yet to take place, these findings could be a significant step forward in our care and treatment of people whose genes mean they have an increased risk of developing breast cancer.'

The discovery was published in the journal Nature Genetics.

Breast cancer is one of the most common cancers in the world and affects more than two MILLION women a year

Breast cancer is one of the most common cancers in the world. Each year in the UK there are more than 55,000 new cases, and the disease claims the lives of 11,500 women. In the US, it strikes 266,000 each year and kills 40,000. But what causes it and how can it be treated?

What is breast cancer?

It comes from a cancerous cell which develops in the lining of a duct or lobule in one of the breasts.

When the breast cancer has spread into surrounding tissue it is called 'invasive'. Some people are diagnosed with 'carcinoma in situ', where no cancer cells have grown beyond the duct or lobule.

Most cases develop in those over the age of 50 but younger women are sometimes affected. Breast cancer can develop in men, though this is rare.

Staging indicates how big the cancer is and whether it has spread. Stage 1 is the earliest stage and stage 4 means the cancer has spread to another part of the body.

The cancerous cells are graded from low, which means a slow growth, to high, which is fast-growing. High-grade cancers are more likely to come back after they have first been treated.

What causes breast cancer?

A cancerous tumour starts from one abnormal cell. The exact reason why a cell becomes cancerous is unclear. It is thought that something damages or alters certain genes in the cell. This makes the cell abnormal and multiply 'out of control'.

Although breast cancer can develop for no apparent reason, there are some risk factors that can increase the chance, such as genetics.

What are the symptoms of breast cancer?

The usual first symptom is a painless lump in the breast, although most are not cancerous and are fluid filled cysts, which are benign. 

The first place that breast cancer usually spreads to is the lymph nodes in the armpit. If this occurs you will develop a swelling or lump in an armpit.

How is breast cancer diagnosed?

  • Initial assessment: A doctor examines the breasts and armpits. They may do tests such as a mammography, a special x-ray of the breast tissue which can indicate the possibility of tumours.
  • Biopsy: A biopsy is when a small sample of tissue is removed from a part of the body. The sample is then examined under a microscope to look for abnormal cells. The sample can confirm or rule out cancer.

If you are confirmed to have breast cancer, further tests may be needed to assess if it has spread. For example, blood tests, an ultrasound scan of the liver or a chest X-ray.

How is breast cancer treated?

Treatment options which may be considered include surgery, chemotherapy, radiotherapy and hormone treatment. Often a combination of two or more of these treatments are used.

  • Surgery: Breast-conserving surgery or the removal of the affected breast depending on the size of the tumour.
  • Radiotherapy: A treatment which uses high energy beams of radiation focused on cancerous tissue. This kills cancer cells, or stops them from multiplying. It is mainly used in addition to surgery.
  • Chemotherapy: A treatment of cancer by using anti-cancer drugs which kill cancer cells, or stop them from multiplying.
  • Hormone treatments: Some types of breast cancer are affected by the 'female' hormone oestrogen, which can stimulate the cancer cells to divide and multiply. Treatments which reduce the level of these hormones, or prevent them from working, are commonly used in people with breast cancer.

How successful is treatment?

The outlook is best in those who are diagnosed when the cancer is still small, and has not spread. Surgical removal of a tumour in an early stage may then give a good chance of cure.

The routine mammography offered to women between the ages of 50 and 70 means more breast cancers are being diagnosed and treated at an early stage.

For more information visit breastcancernow.org or call its free helpline on 0808 800 6000

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