Jolie gene flaw — now first man has surgery

The Sunday Times 19 May 2013

A 53-YEAR-OLD Londoner has become the first man in the world to have his prostate removed after discovering he is carrying a “faulty” gene that puts him at increased risk of developing cancer.

The businessman, who has family members who have suffered breast or prostate cancer, discovered he was a carrier of the BRCA2 gene after he was asked to take part in a genetic trial at the Institute of Cancer Research (ICR) in London.

The BRCA1 and BRCA2 genes have long been linked to an aggressive form of breast cancer. Last week the actress Angelina Jolie announced she had had her breasts removed to reduce her chances of getting breast cancer after testing positive for the “faulty” BRCA1 gene.

Now, in research published a month ago, the genes have also been linked to a fast-moving and lethal form of prostate cancer.

Anxious to avoid the fate of his relatives, the British man, who is married with children, asked to have his prostate removed. Doctors were at first reluctant, as removing the prostate can have serious consequences. Not only does it leave the man infertile but it can also lead to permanent incontinence and sexual dysfunction.

There were no signs the man’s prostate was anything other than healthy. The standard prostate-specific antigen (PSA) screening test, which is used to detect raised levels of a protein associated with prostate cancer, did not show any abnormality, and nor did an MRI scan. Doctors were finally persuaded to operate when a tissue sample taken from the gland showed up microscopic malignant changes.

However, the surgeon, Roger Kirby, a leading prostate cancer specialist, said even then he would not have operated if the man had not been carrying the BRCA2 gene.

“The relatively low level of cancerous cells we found in this man’s prostate before the operation would these days not normally prompt immediate surgery to remove the gland, but given what we now know about the nature of BRCA2, it was definitely the right thing to do for this patient,” said Kirby.

The ICR specialists were astonished when they examined the prostate after surgery to discover there was a considerable level of undetected cancer.

“This patient is now absolutely fine,” said Kirby. “A number of these BRCA families have now been identified, and knowing you are a carrier is like having the sword of Damocles hanging over you. You are living in a state of constant fear. I am sure more male BRCA carriers will now follow suit.”

Results published last month from ICR trials involving almost 2,000 men revealed that those who carry BRCA1 have a 3.4 times higher risk of developing prostate cancer, while those who carry BRCA2 have 8.6 times the risk of non-carriers.

Ros Eeles, ICR professor of cancer genetics, who led the study, said her team was now recruiting 26,000 men with a family history of prostate cancer for a five-year PSA monitoring study to decide if such men should be offered genetic screening so they could decide whether to ask for prostate removal.

Kirby, who had his own prostate removed because of non-inherited cancer earlier this year, expects it to become acceptable to remove healthy prostates in men with BRCA2 in the same way women carriers of the gene have mastectomies well before any cancer emerges.

Cancer of the prostate, the walnut-sized gland that is wrapped around the urethra and is responsible for seminal fluid production, affects one in eight men in the UK. There are 10,000 deaths each year. Often the cancer advances very slowly and those with prostate tumours die from something else.