Although Claire and her sister were unable to have genetic testing, because their mother died before the discovery of the rogue genes, Claire has always been conscious of the need to monitor the health of her breasts, and she became involved in various studies on hereditary breast cancer. She and her family lived in the Netherlands for some years, where it was possible to have regular mammograms despite being quite young. However, on her return to the UK and with her 40th birthday looming, she asked to be referred to an NHS breast consultant. “She asked me about the female relatives on my mother's side who hadn't died of breast cancer, and I said there weren't any! Each generation had suffered from it, and my mother had developed a tumor in her left breast after her earlier mastectomy of the right breast.”
“We can't say whether I have got the gene, although the chances are quite high. I told the consultant that, had it been possible to be tested and had the test proved positive, I would have opted for surgery. I understand that removing my breasts didn't guarantee complete immunity – I now have the same chance of developing breast cancer as the male population.”
“I was born when my grandma was dying, and I watched my mother dying from the disease. It's always been around my family. I had had enough.” After being referred to a psychiatrist, and following more careful consideration, Claire had the bilateral mastectomy. “I thought long and hard about reconstruction, but the consultant said she could only do one side at a time. I felt I would go without for a while, and reconsider it later.”
Claire's operation has, she says, given her a new lease on life. “I understand now that people who get a diagnosis live for each day.” There was also another factor that Claire had not anticipated. After the operation, the pathology results showed some early cell changes. “This would not have been picked up on a mammogram but the statistics show that it would be quite likely to develop into a malignancy. That made me thank God I did this.”
Tyrena B.'s mother developed breast cancer at the age of 47 and, following a mastectomy, she is now extremely well. Tyrena herself developed the disease at age 37, and had a mastectomy last year. When Tyrena had her diagnosis, she was told that she was in a high risk group because of her mother's breast cancer. After her operation, Tyrena and her 17-year-old daughter Emma were offered genetic counseling, but decided against it. “I think that if a genetic test revealed that my daughter was in a higher risk category, she would be put under a lot more pressure. It doesn't change the way you live. It doesn't mean you will definitely get cancer.”
Emma has been advised to have screening from the age of 32, five years before the age at which her mother developed breast cancer. She has also been shown how to carry out self-examination and has attended a well woman clinic. Tyrena feels that, in the absence of any preventative treatment upon the identification of any faulty genes, testing positive for the mutant genes would only have a negative effect on her daughter, with no obvious benefits. “Emma is a sensible girl who will continue to check herself regularly. But she has her whole life ahead of her and I'd like her to enjoy it without constantly worrying about breast cancer.”
Claire also has a daughter, who is nearly 15. "My hope is that treatment is moving on, so she should be OK if she is unlucky enough to have inherited a faulty gene from me." Neither Claire nor her daughter was offered genetic counseling at the time of Claire's treatment, although Claire has had some tissue stored as part of the IBIS study against the possibility of future genetic testing. In the meantime, Claire wants her daughter to enjoy her youth: “I will be advising her to check herself, but I am trying not to make a huge deal of it for her sake. She is nearly 15, that arrogant age when children think they are immortal. At present, she is treating this potential threat for her as 'way down the line' – which it is, in many ways.”
Carolyn W., whose mother died of breast cancer when Carolyn was 17, was first diagnosed with the disease in 1999 at age 36. Her family has a long history of breast and ovarian cancer, with her aunt developing it and her grandmother dying of it. Because of this, she was offered genetic testing and counseling at the time of her own diagnosis. Despite being told that there was a 96 percent chance that she was carrying faulty genes, she tested negative for both BRCA1 and BRCA2.
Carolyn's doctors now think that another gene, HNPCC (hereditary non-polyposis colon cancer), may be responsible for her family's health problems, and she is awaiting the results of further tests for this gene, which can also give rise to both breast and ovarian cancer. Once Carolyn has received the results of the latest test, her brother and sister have both decided to be tested also. “Knowing what I am carrying will help both them and me," she says. "We can all be screened more thoroughly.”
Meanwhile, the fact that identification of the presence of faulty genes offers no possibility of a better cure is enough to make Vivienne H. and her daughters reject genetic testing. Vivienne had a mastectomy in 1992. Her mother died from breast cancer in 1987 and her grandmother in 1932. Vivienne has three daughters, and she, like many, describes the threat of breast cancer as a 'time bomb' hanging over the family. But, she says, until the medical profession can offer more in terms of preventative treatment to those who have a positive genetic test, she sees no value in it.
“If you are aware that you have a family history of breast cancer, you are going to check yourself regularly anyway. From my daughters' point of view, they can't live every day of their lives thinking about breast cancer. Until the medical profession says 'hey, you are at risk and we can do this for you', my daughters have the worry already, so I don't see the use of testing.”
Vivienne is more concerned about the quality and consistency of advice and screening offered to younger women. “It seems the treatment you get depends largely on the area in which you live,” she says. “One of my daughters has been offered no check-ups or screening at all, another was referred to the family clinic and goes for regular check-ups, while the third has only just succeeded in getting herself referred to a breast clinic, ten years after my operation. I do think this should be improved, because women who have 'breast cancer families' need assurance.”
“The best thing in my view for younger women with a higher perceived risk of breast cancer would be for increased opportunities for screening. I am looking to the medical profession for better answers.”