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Angelina Jolie BRCA cancer gene test ‘should be offered to patients with a five per cent family history risk’ of the disease


WOMEN at high risk of ovarian and breast cancer are still missing out on a potentially life-saving gene test made famous by Hollywood star Angelina Jolie, according to a report today.

The analysis by Ovarian Cancer Action has called on health authorities across the UK to lower the threshold for the BRCA1 and BRCA2 genetic screening to patients with a five per cent probability of carrying a mutated form based on their family history of cancers. Currently the test is limited on the NHS to women already diagnosed with ovarian cancer or to patients with a one in ten likelihood of being a carrier.

All health boards in Scotland can refer patients for the blood test, with the samples analysed at regional genetics labs in Aberdeen, Dundee, Glasgow, Edinburgh. However, the charity said the current 10 per cent standard – which applies in Scotland as well as the rest of the UK – limits access to testing for those who have smaller families, or limited contact with relatives.

As a result, the report said some patients were being wrongly considered “low risk” and pointed to research showing that the 10 per cent cut-off “will result in substantial numbers of those with a BRCA mutation being missed.”

The report also recommended that tumour samples from women with ovarian cancer should be retained as standard so that families are not prevented from accessing testing if patients have died.

Read more: Breast cancer gene test extended in Scotland

Katherine Taylor, chief executive of Ovarian Cancer Action, said: “Every eligible woman who has been denied testing and goes on to develop ovarian cancer represents a cancer prevention failure. Treatment for ovarian cancer lags behind other, better known, cancers and survival rates remain low. BRCA testing is one of our strongest weapons in the fight against this disease.”

Everyone is born with BRCA1 and BRCA2 genes, which act as tumour suppressors. However, mutations in these genes are linked to substantially higher risks of breast and ovarian cancer, as well as cancers such as prostate or pancreatic. Higher rates of the mutations are found in Ashkenazi Jewish populations and those from Dutch, Icelandic, Norwegian, Polish and Swedish ancestry.

Read more: Ovarian cancer symptoms being missed

A woman with a BRCA1 mutation, who lives to 70, has a 60 to 90 per cent lifetime risk of developing breast cancer compared to an 11 per cent average risk of the disease among the general population. For ovarian cancer, the average lifetime risk is two per cent, but rockets to 40 to 60 per cent among women carrier at BRCA1 mutation. Around 17 per cent of cases of ovarian cancer are linked to BRCA.

Men are also eligible for screening, however, as a BRCA2 mutation doubles their risk of developing prostate cancer.

The report said that BRCA testing in Scotland rose 14 per cent between 2014/15 and 2015/16, but warned that UK-wide “Some healthcare professionals are not fully informed about BRCA and eligibility for genetic testing for those with family history, so are denying testing through misinformation with possible life-threatening consequences”

HeraldScotland: Angelina Jolie

The BRCA gene garnered headlines after actress Angelina Jolie revealed that she had undergone a voluntary double mastectomy in 2013 after testing positive for a BRCA1 She went on to have her ovaries and fallopian tubes removed in 2015 after fearing she was in the early stages of cancer. Her mother had died from ovarian cancer.

Aimi Munro, 34, from Dundee, tested positive for the BRCA1 gene in 2013, aged 30. Her mother had died of breast cancer aged 35 and her grandmother aged 36 from ovarian cancer. There was also a family history of womb cancer. Ms Munro opted for a double mastectomy – which reduces her risk of breast cancer to the population average – and underwent a hysterectomy seven weeks ago. She had delayed the operation until she had her daughter, Rae, who will be one in November, but said it was “devastating” to know that she and her partner – who she met in 2014 – could not have more children.

She said: “We had to kind of speed up that part of the relationship because of what I was facing. That’s why I say it really is life-changing. The hysterectomy was a really difficult one for me emotionally and psychologically. Emotionally, the fact that I’m not going to have any more children is devastating. It’s like a ‘forced decision’. You don’t have to have this surgery – but if you don’t you might get cancer.”

Ms Munro had gone to her GP to ask about genetic testing after watching a feature on the BRCA gene on the Lorraine Kelly show. Her sister was also tested but was not a carrier.

HeraldScotland: Aimi Munro and daughter, Rae

Ms Munro said she had “no doubts” about undergoing the surgery following her test results.

She said: “I thought I had prepared myself for it, but obviously I hadn’t. It just throws you. At the age of 30 finding that out, my head was all over the place. It’s life-changing. I found out in February 2013 and I had my double mastectomy that same year, in the August.

“I didn’t have any doubts. Before I discussed it with my genetics counsellor about what the options were, so I knew all along that if I did have the gene I would have as much surgery as needed to prevent me developing cancer.

“But it’s still one of the hardest things to go through. It’s not an easy decision.”

A spokesman for the Scottish Government said: “The Scottish Government understands that early detection of all cancers is crucial and the earlier it can be diagnosed, the better the chance of a positive outcome.

“Through earlier detection, more rapid diagnosis and treatment as well as access to modern drug treatment, five-year survival for ovarian cancer has increased by 46.6 per cent between 1987-91 and 2007-11.

“Nevertheless, we know that there is still more to be done and are committed to building on the progress already achieved.”


Source : HeraldScotland

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