15/02/2012 06:47 GMT

Women With Breast Cancer 'Should Be Offered Faulty Gene Test'

Hundreds of women diagnosed with triple-negative (TN) breast cancer should be tested for faults in the BRCA1 gene, a leading cancer charity has suggested.

According to a study by Cancer Research and The Institute of Cancer Research, women carrying the faulty BRCA1 gene have a 65% chance of developing breast cancer and a 40% chance of developing ovarian cancer by the time they reach 70.

Testing for the BRCA1 gene is costly, as it requires specialist knowledge and software. This is why the National Institute for Health and Clinical Excellence (NICE) currently recommends that tests should only be offered to patients if the chances of detecting a mutation is greater than 20%.

However, according to the recent research of more than 300 women suffering from TN breast cancer, they discovered that one in five were carrying the BRCA1 mutated gene.

Researchers therefore argue that based on their scientific evidence, all women under 50, diagnosed with TN breast cancer should be offered a test for the faulty gene.

Researchers also add that by undertaking this measure, it could help medical experts to create tailored therapy for BRCA1 carriers, such as platinum-based chemotherapy (such as carboplatin and cisplatin) as well as particular types of chemotherapy, designed especially to benefit women with the BRCA1 gene.

Crucially, it will also enable carriers to alert their families so they too can be tested for the hereditary gene.

"Our findings show that women diagnosed with triple-negative breast cancer under 50 should be offered BRCA1 testing," professor Nazneen Rahman, lead author of the study, said in a statement.

"Using a simple age criteria for testing will provide a clear and understandable guide for doctors and women to follow, and should result in many more women benefiting from the optimized care that genetic information makes possible."

Referring to the debate over the cost of the treatment, professor Rahman admitted there were "hurdles" to overcome but assured that experts are "moving towards an era if faster and cheaper genetic testing, so it will soon be possible".

Adding to this, professor Peter Johnson, chief clinician at Cancer Research UK said in a joint statement: “It’s important that we identify women and their families who carry the BRCA1 mutations. They're more likely to develop breast and ovarian cancer, so armed with this knowledge, doctors can offer targeted screening and tailored treatments to these women.”

If the current NICE guidelines are changed, this could create an extra 1,200 tests a year, putting more strain on current genetic testing services.

However, professor Johnson believes that the NHS "need to adapt" and that it’ll be more cost effective in the long-term as it could lead to “substantial reduction in the number of breast and ovarian cancers by offering preventative treatments for those who are at greater risk."

Dr Sarah Rawlings from Breakthrough Breast Cancer, told The Huffington Post: "It's vitally important that BRCA faults are identified as this means families have the information they need to make key decisions about their health.


"Over the past few years genetic testing has become faster, cheaper and more informative which means now is the right time to re-evaluate who qualifies for this testing.  The good news is that NICE is currently updating its guidelines on BRCA testing.


"We hope this new information will be considered by NICE to ensure that patients get the care that’s right for them.”

The BCRA1 gene, in normal cells, are known as 'tumour suppressors' and help stabilise the cell's DNA by preventing uncontrolled cell growth. However, when this gene is faulty or mutated, its role is reversed as it no longer helps to protect against cancer tumours, such as breast and ovarian.

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