For three sisters who discovered they all carried the breast cancer gene, there was only one option. Hannah Duguid reports

At the Birmingham Women's Hospital in September last year, three envelopes were handed to three sisters: Julie Owen, Pam Dugmore and Rosemary Moss. Anxiety was plain on the women's faces, for these small brown envelopes contained the results of a test that determined whether they were carriers of a mutated gene, a gene that meant they could have up to an 80 per cent chance of developing breast cancer.

Pam, who is 50, was the first to open her envelope. It was positive. Julie burst into tears. "I couldn't believe it was Pam," says Julie, 45. "I thought there had to be one of us who had the gene. I thought it would be me." But Julie's envelope contained more bad news: she, too, carried the mutated gene. Only Rosemary, 64, did not. With such a high risk, the sisters had been told that the only way they could significantly decrease the likelihood of breast cancer was to undergo a double mastectomy.

There was already a tragic history of breast cancer in the family. One sister, Jennifer, had died from cancer in 1997 and another, Dawn, was in remission. Their grandmother, mother and an aunt on their father's side had all died from the disease.

Fifteen per cent of breast cancer cases are believed to be hereditary. Of that figure, 5 per cent are caused by one of two gene mutations, BRCA1 and BRCA2, which were identified in 1994. There is a 50 per cent chance of the gene being passed from one generation to the next, and it is not just the female line that is affected. The gene causes six per cent of all breast cancers in men, and 16 per cent of all prostate cancers.

When the women's sister, Dawn Fellowes, now 47, was diagnosed with breast cancer in 2003, she underwent an immediate lumpectomy and her lymph glands were removed. "I was left with one-and-a-half breasts," she says. "They cut the tumour out from the top half of my left breast, leaving a large dent. But at that time I didn't care what they looked like. I just wanted to be cancer free. Two weeks after surgery, they told me I had a particularly aggressive grade-three cancer and that that they had also found it in my lymph glands. The doctor drew a line with life at one end and death at the other. She put me a centimetre from death. That was the worst moment. My son was four years old."

After six months of chemotherapy and radiotherapy, Dawn's cancer was in remission. But doctors at Russell's Hall Hospital in Dudley decided there was a chance that Dawn carried the mutated gene, which meant the cancer would be more likely to return. She was offered genetic counselling and a gene test.

"Naively, my understanding was that if I was positive, I would just have to be extra vigilant about cancer screenings," she says. But the diagnosis had ramifications. "I felt such a responsibility for [my family]. If I tested positive, then the implications were huge. Everybody would need to be tested. My sisters, their sons and daughters, the lot."

The family discussed the options and decided it was better to know. "If we knew, we could at least do something about it," she says.

In November 2003, Dawn gave a blood sample. But it took 18 months to get the results - NHS tests can be subject to long delays, due to bottlenecks in the diagnostic services. She learnt that she carried the BRCA2 gene, which meant her risk of developing cancer again was 80 per cent. "I was told my only real option was a double mastectomy. There was no question about whether I would do it or not. I had to. My partner had been very understanding about my breasts after my surgery, but the thought of having no breasts was very traumatic. What made the difference was that they offered me an immediate reconstruction. Without that option, it would have been a terrible decision."

"Since 2002, we have been doing more mastectomies with immediate reconstruction," says Mehboob Ali, the consultant plastic surgeon at Russell's Hall Hospital, who operated on Dawn. "Once they have had a mastectomy it is not cancer that affects women, it's the loss of their breasts. Every time they see their flat chest they are reminded of the cancer. Patients who have reconstruction appear to make a better recovery."

It was two weeks after Dawn's positive result that Julie and Pam were told that a double mastectomy was their only real option. Having the operation did not mean they would never get cancer, but the risk would come down to that of the general population - one in nine.

"The hard part was that I had healthy breasts," says Julie. "If you have cancer, a mastectomy is a case of survival. Having healthy breasts removed puts the operation in a different light. But I realised it had to be done. They would not have offered it to us if they didn't deem it necessary. It was a big help to know that I'd go down to theatre with breasts and wake up with them."

The three sisters were booked in for their operation within four weeks of one another in June this year. In each case the breast tissue would be removed and a temporary saline balloon inserted under the chest muscle, which stops skin around the breast from shrinking.

At the second stage the breast would be rebuilt using a silicone implant, or fat from the back or abdomen tunnelled underneath the skin to the chest. This second procedure, an autologous reconstruction, means the breasts look and feel more natural. Nipples are removed as they contain ducts that can harbour cancer cells. A new nipple is tattooed on at a later stage.

Julie went first. "I was told that for the first couple of days after the operation I would be thinking, 'What have I done?' But there was none of that. My boobs are better then they were before. They're fuller, although they don't feel the same. It's the same sensation as touching cotton wool, they don't feel like a part of me," she says.

As Julie left hospital, Dawn went in. After three years with uneven breasts, they were matched up to the same size. As the surgeons were using fat from her stomach to rebuild her breasts, she was also given a tummy tuck. The last to go, Pam, was not apprehensive. With her two sisters before her, she had no need to be. Her operation passed without incident and was a success.

For all three women the outcome was positive. They must still have yearly screenings, but, with their breast tissue removed, that 80-per-cent risk factor is no longer an issue.

Despite all this, Julie was devastated when her 29-year-old daughter, Jenny, was found to have the mutated gene. She will undergo a double mastectomy in January. Julie says: "I feel guilty, which I know is not rational. But it is my fault. I passed it on to her."

Julie's youngest daughter and Dawn's son are still too young to be tested. They must wait until they are 25. But what anyone with the gene mutation may face under the surgeon's knife is far better than biding time, awaiting an almost certain diagnosis of cancer.

Breast cancer: the genetic link

* Women with a very strong family history of breast cancer may have a faulty gene that increases their risk.

* Several genes have been identified that increase the risk but so far only two can be tested for: BRCA1 and BRCA2.

* Your lifetime risk of getting breast cancer if you carry one of these genes could be as high as 85 per cent. In other words more than eight out of ten women who carry one or other of these genes will develop breast cancer at some point in their lives.

* Up to half of all women who carry a faulty breast cancer gene will have developed breast cancer by the time they are 50.

* The actual risk varies between families. The activity of the breast cancer genes can be affected by other genes, or by any other risk factor for the disease, such as lifestyle. It is not a certainty that women with the breast cancer genes will get breast cancer.

* Most breast cancers happen by chance. Only five cases out of 100 are related to known breast cancer genes.

* Women who opt for a mastectomy can have a breast reconstruction procedure carried out at the same time or later. Some prefer it done at the same time, in one operation, while others prefer to get over the mastectomy and treatment before thinking about reconstruction.

Jeremy Laurance