Even celebrities are mortal. They share our genes and, like us, cannot escape their inheritance. Angelina Jolies graceful and dignified account of her encounter with her own mortality in The New York Times will inspire millions.

It will also shine a light on the developing science of genetic diagnosis and DNA profiling which is increasingly allowing patients at high risk of inherited diseases to be identified so that they can take preventive action.

The BRCA1 and BRCA2 genes were the first to be identified in breast and ovarian cancer more than 20 years ago. The presence of faulty versions of the genes increases the risk of the diseases by at least 50 per cent, the exact proportion depending on other factors. Just as the risk varies from woman to woman, so does the response.

In Ms Jolies case it was radical surgery to remove her breasts. About 3,000 women in the UK have done likewise. But for other women the decisions required may be less radical and distressing, involving modifying lifestyle, having regular mammograms or MRI scans or starting a course of preventive drugs.

Only last January, the UKs National Institute for Clinical Excellence recommended for the first time in draft guidance that women at high risk of breast cancer be prescribed the drug tamoxifen or a related drug as a preventive measure. Tamoxifen has been established as a treatment for the disease for decades.

Ms Jolie, however, opted for surgery with its more certain outcome. Doctors told her that her risk was raised by 87 per cent and reduced to 5 per cent by the removal of her breasts. Take away most of the tissue where the cancer develops and you take away most of the risk.

She chose nipple preserving surgery one of the toughest choices women in her position have to make. It meant that some breast tissue was left behind. But after reconstruction with implants, her breasts would look normal following the operation which was important to reassure her children.

They can see my small scars and thats it. Everything else is just Mommy, the same as she always was, she wrote.

The maximum protection from the surgery is achieved by removing the maximum amount of tissue. But removal of the nipple is a disfiguring operation and a step too far for many women.

Genetic testing of the kind Ms Jolie underwent is becoming increasingly common. Testing for the presence of specific mutations is already available for a range of cancers, including those of the womb, bowel, stomach and bladder, where the presence of an inherited faulty gene may increase the risk by between 10 and 60 per cent

More here:
Angelina Jolie's double mastectomy puts genetic key to breast cancer in the spotlight

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